Alternative Symbols
- OI4 [HGNC]
Alternative Names
- collagen, type I, alpha 1 [SNPedia, HGNC]
SNPs
| rsID | SNPedia | dbSNP | Chips | Special Name | Wild (plus) | Risk (plus) | Frequency | PubMed IDs |
|---|---|---|---|---|---|---|---|---|
| rs1800012 |  | | A45 | CC | AA | A=0.131148 | 19193663 27917384 22174012 22190259 15113403 15157284 16804049 17303000 17903296 18353721 18787887 19016596 19379518 19841454 20015871 20798928 21269451 21396799 22057139 22066665 28206959 29088884 29799806 | |
| rs9898186 | | | A45 | CC | TT | T=0.254125 | ||
| rs72667023 | | | A45 | AA | 19358256 | |||
| rs72656343 | | | A45 | CC | AA | |||
| rs72653173 | | | A45 | GG | AA | C=0.000004 | 11113887 15024745 15241796 17392686 | |
| rs72653170 | | | A45 | GG | AA | A=0.000008 | ||
| rs72648320 | | | A45 | CC | TT | 7942841 | ||
| rs72645357 | | | A45 | CC | TT | 2037280 8669434 17078022 | ||
| rs72645353 | | | A45 | CC | TT | |||
| rs72645347 | | | A45 | GG | AA | |||
| rs72645328 | | | A45 | CC | TT | 17078022 | ||
| rs2586494 | | | A45 | AA | CC | A=0.182554 | 21602843 18996919 | |
| rs2586488 | | | A45 | AA | GG | A=0.330404 | 25562121 | |
| rs16948767 | | A45 | TT | GG | G=0.047628 | |||
| rs1107946 | | | A45 | AA | CC | A=0.211121 | 22174012 22190259 15113403 15157284 16804049 17303000 17557158 17697348 17903296 18787887 19016596 20798928 21269451 22057139 22066665 | |
| rs797045033 | | | A5 | CC | TT | |||
| rs794727394 | | | A5 | AA | CC | |||
| rs794726873 | | | A5 | GG | AA | |||
| rs786205507 | | | A5 | AA | TT | |||
| rs786205506 | | | A5 | CC | TT | |||
| rs786205505 | | | A5 | AA | CC | |||
| rs786205504 | | | A5 | TT | AA | |||
| rs72667036 | | | A4 | GG | AA | |||
| rs72667032 | | A4 | CC | C=0.003342 | ||||
| rs72667031 | | A4 | CC | AA | ||||
| rs72667020 | | | A4 | CC | TT | |||
| rs72654799 | | | A4 | GG | CC | A=0.000064 | ||
| rs72654794 | | | A4 | AA | ||||
| rs72653177 | | | A4 | GG | AA | A=0.000060 | ||
| rs72653151 | | A4 | ||||||
| rs72653147 | | A4 | TT | T=0.000008 | ||||
| rs72651642 | | | A4 | GG | AA | A=0.00003 | ||
| rs72651635 | | A4 | AA | CC | ||||
| rs72651614 | | | A4 | GG | CC | A=0.000004 | ||
| rs72648343 | | A4 | ||||||
| rs72648339 | | A4 | ||||||
| rs72648337 | | | A4 | CC | TT | T=0.000008 | ||
| rs72648326 | | | A4 | GG | AA | |||
| rs72645341 | | A4 | TT | T=0.000020 | ||||
| rs72645321 | | | A4 | CC | TT | |||
| rs72645318 | | | A4 | GG | AA | |||
| rs67879854 | | A4 | ||||||
| rs67693970 | | | A4 | CC | TT | |||
| rs67682641 | | | A4 | CC | TT | |||
| rs67543897 | | A4 | ||||||
| rs41316687 | | A5 | AA | A=0.001091 | ||||
| rs28574643 | | A5 | CC | AA | A=0.162167 | |||
| rs2269336 | | | A5 | CC | C=0.202751 | 22219633 17557158 18836165 | ||
| rs2075554 | | | A5 | TT | T=0.201532 | 21602843 | ||
| rs193922158 | | | A5 | TT | CC | |||
| rs193922155 | | | A5 | TT | CC | |||
| rs193922153 | | | A5 | GG | AA | A=0.000148 | 16786509 | |
| rs193922152 | | | A5 | TT | CC | |||
| rs193922150 | | | A5 | CC | TT | T=0.000025 | ||
| rs193922148 | | | A5 | AA | ||||
| rs193922147 | | | A5 | CC | GG | A=0.000008 | ||
| rs193922145 | | | A5 | GG | AA | |||
| rs193922144 | | | A5 | GG | AA | |||
| rs193922143 | | | A5 | AA | ||||
| rs193922141 | | | A5 | TT | ||||
| rs193922140 | | | A5 | CC | GG | |||
| rs193922138 | | | A5 | GG | CC | |||
| rs144751329 | | | A5 | CC | TT | T=0.000111 | ||
| rs139955975 | | | A5 | CC | TT | T=0.000129 | ||
| rs1007086 | | | A5 | AA | GG | A=0.336968 | 20617897 17697348 | |
| rs946705319 | | | A | AA | GG | |||
| rs886044125 | | | A | CC | TT | |||
| rs886043749 | | | A | CC | GG | |||
| rs886042609 | | | A | GG | TT | |||
| rs886042603 | | | A | AA | ||||
| rs886042602 | | | A | TT | CC | |||
| rs886042473 | | | A | CC | ||||
| rs886042308 | | | A | CC | AA | |||
| rs886042286 | | | A | AA | ||||
| rs886042260 | | | A | CC | TT | |||
| rs886041904 | | | A | CC | TT | |||
| rs886041866 | | | A | CC | GG | |||
| rs886041817 | | | A | CC | TT | |||
| rs886041552 | | | A | GG | TT | |||
| rs886039726 | | | A | CC | TT | |||
| rs865999256 | | A | CC | AA | A=0.00000 | |||
| rs794727319 | | | A | CC | TT | |||
| rs762428889 | | | A | GG | AA | T=0.000088 | ||
| rs72653178 | | | A | CC | TT | |||
| rs72651622 | | | A | CC | TT | |||
| rs72648352 | | A | ||||||
| rs72648316 | | A | ||||||
| rs67771061 | | | A | CC | TT | T=0.000008 | ||
| rs67507747 | | | A | CC | TT | |||
| rs66664580 | | A | TT | T=0.000008 | ||||
| rs66490707 | | | A | CC | TT | |||
| rs370865189 | | | A | GG | CC | T=0.000334 | ||
| rs201682029 | | A | GG | G=0.000573 | ||||
| rs193922157 | | | A | CC | TT | T=0.000008 | ||
| rs193922154 | | | A | |||||
| rs193922151 | | | A | AA | ||||
| rs193922149 | | | A | GG | ||||
| rs193922142 | | A | GG | AA | A=0.000181 | |||
| rs193922137 | | | A | CC | AA | |||
| rs1800219 | | A | GG | AA | A=0.002883 | |||
| rs1800214 | | A | CC | C=0.000358 | ||||
| rs149561221 | | A | CC | TT | T=0.000537 | |||
| rs141726413 | | A | CC | AA | A=0.007510 | |||
| rs1328384458 | | A | CC | TT | ||||
| rs1298621011 | | A | CC | TT | T=0.000004 | |||
| rs117672175 | | A | AA | A=0.000578 | ||||
| rs116794104 | | A | CC | TT | T=0.001002 | |||
| rs1135401953 | | A | CC | TT | ||||
| rs1131692320 | | A | CC | TT | ||||
| rs1131691607 | | A | ||||||
| rs1114167382 | | A | CC | TT | ||||
| rs1064796499 | | | A | CC | TT | |||
| rs1064796415 | | | A | AA | ||||
| rs1064796341 | | | A | |||||
| rs1064796200 | | | A | |||||
| rs1057524547 | | | A | CC | TT | |||
| rs1057518930 | | | A | CC | GG | |||
| rs1057518221 | | | A | CC | TT | |||
| rs1057517965 | | | A | |||||
| rs72667037 | | | 45 | CC | AA | |||
| rs72656352 | | | 45 | |||||
| rs72656334 | | | 45 | CC | AA | |||
| rs72656324 | | | 45 | CC | AA | |||
| rs72656321 | | | 45 | CC | AA | |||
| rs72656306 | | | 45 | CC | TT | |||
| rs72654797 | | | 45 | CC | TT | |||
| rs72653172 | | | 45 | CC | TT | |||
| rs72653169 | | | 45 | CC | TT | |||
| rs72653166 | | | 45 | CC | AA | |||
| rs72653154 | | | 45 | CC | AA | |||
| rs72653152 | | | 45 | CC | AA | |||
| rs72653137 | | | 45 | CC | TT | |||
| rs72653131 | | | 45 | CC | TT | |||
| rs72651653 | | | 45 | CC | AA | |||
| rs72648356 | | | 45 | CC | TT | |||
| rs72648333 | | | 45 | CC | AA | |||
| rs72645365 | | | 45 | CC | AA | |||
| rs72645333 | | | 45 | CC | TT | |||
| rs72645331 | | | 45 | CC | AA | |||
| rs72645323 | | | 45 | CC | TT | |||
| rs72645320 | | | 45 | CC | TT | |||
| rs66523073 | | | 45 | CC | TT | |||
| rs67828806 | | | 4 | CC | TT | 15728585 | ||
| rs8179178 | | | 4 | CC | TT | A=0.0 | ||
| rs74315166 | | 4 | ||||||
| rs74315144 | | 4 | ||||||
| rs74315123 | | 4 | ||||||
| rs74315108 | | 4 | ||||||
| rs72667038 | | 4 | CC | AA | ||||
| rs72667035 | | 4 | CC | TT | ||||
| rs72667034 | | 4 | CC | TT | ||||
| rs72667033 | | 4 | ||||||
| rs72667030 | | 4 | CC | GG | ||||
| rs72667029 | | 4 | CC | AA | ||||
| rs72667028 | | 4 | CC | TT | ||||
| rs72667027 | | 4 | TT | CC | ||||
| rs72667026 | | 4 | TT | AA | ||||
| rs72667025 | | 4 | CC | TT | ||||
| rs72667022 | | | 4 | CC | TT | |||
| rs72667018 | | 4 | CC | TT | ||||
| rs72667017 | | 4 | ||||||
| rs72667016 | | 4 | DD | D=0.0033 | ||||
| rs72667013 | | 4 | TT | CC | ||||
| rs72667008 | | 4 | CC | TT | ||||
| rs72667007 | | 4 | TT | T=0.000008 | ||||
| rs72656351 | | 4 | TT | T=0.000032 | ||||
| rs72656349 | | 4 | CC | TT | ||||
| rs72656348 | | 4 | AA | CC | ||||
| rs72656347 | | 4 | ||||||
| rs72656346 | | 4 | ||||||
| rs72656345 | | 4 | CC | TT | ||||
| rs72656344 | | 4 | TT | T=0.000004 | ||||
| rs72656340 | | | 4 | TT | CC | |||
| rs72656339 | | 4 | AA | CC | ||||
| rs72656336 | | 4 | ||||||
| rs72656335 | | 4 | ||||||
| rs72656333 | | 4 | ||||||
| rs72656329 | | 4 | CC | AA | ||||
| rs72656328 | | 4 | ||||||
| rs72656325 | | 4 | CC | TT | ||||
| rs72656323 | | 4 | CC | TT | ||||
| rs72656319 | | 4 | CC | TT | ||||
| rs72656318 | | 4 | CC | AA | ||||
| rs72656317 | | 4 | CC | TT | ||||
| rs72656315 | | 4 | CC | TT | ||||
| rs72656314 | | | 4 | GG | TT | T=0.000008 | ||
| rs72656313 | | 4 | ||||||
| rs72656310 | | 4 | ||||||
| rs72656309 | | 4 | ||||||
| rs72656308 | | 4 | CC | TT | ||||
| rs72656307 | | 4 | GG | AA | A=0.000024 | |||
| rs72656305 | | 4 | CC | GG | ||||
| rs72654801 | | 4 | TT | GG | ||||
| rs72654800 | | 4 | ||||||
| rs72654798 | | 4 | CC | GG | ||||
| rs72654796 | | 4 | CC | TT | ||||
| rs72654795 | | 4 | CC | TT | ||||
| rs72653176 | | 4 | TT | CC | ||||
| rs72653175 | | 4 | CC | TT | ||||
| rs72653174 | | 4 | ||||||
| rs72653171 | | 4 | TT | CC | ||||
| rs72653167 | | 4 | CC | AA | ||||
| rs72653165 | | 4 | TT | GG | ||||
| rs72653163 | | 4 | CC | TT | ||||
| rs72653162 | | 4 | TT | T=0.00003 | ||||
| rs72653161 | | 4 | GG | AA | ||||
| rs72653160 | | 4 | CC | TT | ||||
| rs72653159 | | 4 | CC | AA | ||||
| rs72653158 | | 4 | CC | AA | ||||
| rs72653156 | | 4 | CC | TT | ||||
| rs72653155 | | 4 | ||||||
| rs72653153 | | 4 | CC | TT | ||||
| rs72653150 | | 4 | CC | TT | ||||
| rs72653149 | | 4 | CC | TT | ||||
| rs72653148 | | 4 | ||||||
| rs72653146 | | 4 | CC | TT | ||||
| rs72653145 | | 4 | CC | TT | ||||
| rs72653142 | | 4 | CC | GG | ||||
| rs72653141 | | 4 | CC | AA | ||||
| rs72653140 | | 4 | ||||||
| rs72653139 | | 4 | ||||||
| rs72653135 | | 4 | CC | TT | ||||
| rs72653134 | | 4 | CC | GG | ||||
| rs72653133 | | 4 | ||||||
| rs72653132 | | 4 | CC | TT | ||||
| rs72653130 | | 4 | CC | GG | ||||
| rs72651669 | | 4 | CC | AA | ||||
| rs72651668 | | 4 | CC | C=0.000004 | ||||
| rs72651666 | | 4 | TT | CC | ||||
| rs72651664 | | 4 | ||||||
| rs72651663 | | 4 | CC | TT | ||||
| rs72651661 | | | 4 | CC | TT | |||
| rs72651657 | | | 4 | CC | AA | |||
| rs72651656 | | 4 | CC | AA | ||||
| rs72651655 | | 4 | ||||||
| rs72651654 | | 4 | CC | TT | ||||
| rs72651652 | | 4 | CC | TT | ||||
| rs72651650 | | 4 | CC | AA | ||||
| rs72651649 | | 4 | CC | AA | ||||
| rs72651648 | | 4 | CC | TT | ||||
| rs72651647 | | 4 | CC | TT | ||||
| rs72651644 | | 4 | ||||||
| rs72651643 | | 4 | ||||||
| rs72651640 | | 4 | DD | D=0.000004 | ||||
| rs72651639 | | 4 | ||||||
| rs72651638 | | 4 | CC | TT | ||||
| rs72651637 | | 4 | CC | AA | ||||
| rs72651636 | | 4 | CC | TT | ||||
| rs72651634 | | 4 | ||||||
| rs72651633 | | 4 | ||||||
| rs72651631 | | 4 | CC | C=0.000008 | ||||
| rs72651630 | | 4 | CC | GG | ||||
| rs72651629 | | 4 | CC | TT | ||||
| rs72651628 | | 4 | ||||||
| rs72651627 | | 4 | CC | TT | ||||
| rs72651626 | | 4 | CC | GG | ||||
| rs72651625 | | 4 | CC | AA | ||||
| rs72651624 | | 4 | CC | TT | ||||
| rs72651623 | | 4 | TT | T=0.000004 | ||||
| rs72651621 | | 4 | ||||||
| rs72651620 | | 4 | ||||||
| rs72651619 | | 4 | CC | TT | ||||
| rs72651618 | | 4 | ||||||
| rs72651617 | | 4 | TT | GG | ||||
| rs72651616 | | 4 | ||||||
| rs72651613 | | 4 | CC | TT | ||||
| rs72648370 | | 4 | CC | TT | ||||
| rs72648369 | | 4 | CC | GG | ||||
| rs72648366 | | 4 | CC | TT | ||||
| rs72648365 | | 4 | ||||||
| rs72648362 | | 4 | TT | CC | ||||
| rs72648357 | | 4 | ||||||
| rs72648355 | | 4 | CC | AA | ||||
| rs72648354 | | 4 | CC | GG | ||||
| rs72648353 | | 4 | CC | AA | ||||
| rs72648350 | | 4 | CC | AA | ||||
| rs72648349 | | 4 | ||||||
| rs72648348 | | 4 | CC | AA | ||||
| rs72648345 | | 4 | CC | GG | ||||
| rs72648344 | | 4 | CC | TT | ||||
| rs72648342 | | 4 | CC | TT | ||||
| rs72648341 | | 4 | CC | TT | ||||
| rs72648338 | | 4 | TT | CC | ||||
| rs72648335 | | 4 | ||||||
| rs72648334 | | 4 | CC | GG | ||||
| rs72648332 | | 4 | CC | AA | ||||
| rs72648330 | | 4 | CC | TT | ||||
| rs72648328 | | 4 | CC | AA | ||||
| rs72648327 | | 4 | CC | C=0.000159 | ||||
| rs72648325 | | 4 | ||||||
| rs72648324 | | 4 | CC | TT | ||||
| rs72648323 | | 4 | CC | TT | ||||
| rs72648322 | | | 4 | CC | TT | |||
| rs72648321 | | 4 | ||||||
| rs72648319 | | 4 | CC | AA | ||||
| rs72648318 | | 4 | CC | TT | ||||
| rs72648317 | | 4 | CC | TT | ||||
| rs72648315 | | 4 | CC | GG | ||||
| rs72648314 | | 4 | CC | AA | ||||
| rs72645370 | | 4 | ||||||
| rs72645368 | | 4 | CC | TT | ||||
| rs72645363 | | 4 | CC | GG | ||||
| rs72645362 | | 4 | AA | A=0.000024 | ||||
| rs72645356 | | | 4 | CC | TT | |||
| rs72645355 | | 4 | CC | TT | ||||
| rs72645354 | | 4 | CC | TT | ||||
| rs72645352 | | 4 | CC | TT | ||||
| rs72645351 | | 4 | ||||||
| rs72645350 | | 4 | CC | TT | ||||
| rs72645346 | | 4 | CC | TT | ||||
| rs72645345 | | 4 | ||||||
| rs72645343 | | 4 | CC | TT | ||||
| rs72645340 | | 4 | CC | TT | ||||
| rs72645339 | | 4 | CC | TT | ||||
| rs72645338 | | 4 | TT | GG | ||||
| rs72645337 | | | 4 | CC | GG | |||
| rs72645336 | | 4 | CC | TT | ||||
| rs72645335 | | 4 | CC | TT | ||||
| rs72645334 | | | 4 | CC | TT | |||
| rs72645330 | | 4 | ||||||
| rs72645329 | | 4 | CC | AA | ||||
| rs72645325 | | 4 | CC | TT | ||||
| rs72645324 | | 4 | CC | AA | ||||
| rs72645322 | | 4 | ||||||
| rs72645319 | | 4 | CC | TT | ||||
| rs72645317 | | 4 | CC | AA | ||||
| rs72645316 | | 4 | CC | TT | ||||
| rs72645315 | | 4 | CC | TT | ||||
| rs72645313 | | 4 | AA | CC | ||||
| rs68181904 | | 4 | ||||||
| rs68181175 | | 4 | ||||||
| rs68114505 | | 4 | AA | A=0.00000 | ||||
| rs68062484 | | 4 | ||||||
| rs68014162 | | 4 | ||||||
| rs67815019 | | | 4 | CC | TT | |||
| rs67641695 | | 4 | CC | TT | ||||
| rs67569268 | | 4 | ||||||
| rs67445413 | | | 4 | CC | TT | |||
| rs67416837 | | 4 | ||||||
| rs67394386 | | | 4 | CC | TT | |||
| rs67368147 | | | 4 | CC | TT | |||
| rs67364703 | | 4 | ||||||
| rs67067133 | | 4 | ||||||
| rs66893386 | | 4 | ||||||
| rs66761141 | | 4 | ||||||
| rs66548636 | | 4 | ||||||
| rs66489345 | | 4 | CC | TT | ||||
| rs57377812 | | 4 | ||||||
| rs41316657 | | 4 | TT | T=0.009764 | ||||
| rs397514672 | | | 5 | GG | AA | |||
| rs34940368 | | | 4 | GG | CC | A=0.001368 | ||
| rs2857396 | | 4 | GG | AA | G=0.130588 | |||
| rs2696247 | | 4 | AA | GG | G=0.170993 | |||
| rs2586498 | | 4 | AA | GG | A=0.278757 | |||
| rs2277632 | | 4 | AA | GG | G=0.178686 | |||
| rs2141279 | | | 4 | TT | CC | T=0.133051 | 20617897 | |
| rs2075555 | | | 4 | TT | T=0.201556 | 17903305 21791674 22022476 22219633 17557158 17903296 18836165 19180518 19260140 24528085 | ||
| rs1800215 | | | 5 | TT | CC | T=0.015284 | 15113403 15157284 18996919 19152976 | |
| rs1061970 | | | 5 | AA | GG | G=0.142305 | 24072491 | |
| rs1061947 | | 4 | GG | AA | A=0.153463 | |||
| rs1057297 | | 4 | CC | AA | A=0.020559 | |||
| rs2412298 | | | GG | AA | 16804049 19016596 20798928 21269451 | |||
| rs2249492 | | | CC | C=0.409729 | 29799806 | |||
| rs2075559 | | | GG | TT | G=0.466966 | 24072491 | ||
| rs17639446 | | | AA | CC | C=0.078191 | 20617897 | ||
| rs113647555 | | | GG | AA | A=0.024943 | 23941072 | ||
| rs11327935 | | | AA | DD | D=0.17945 | 22190259 17903296 21777208 | ||
| rs1085307454 | | | CC | TT | ||||
| rs1061237 | | | AA | TT | G=0.322057 | 25562121 |
PubMed References
-
PMID:3178743 [HGNC]
PMID:17392686 [rs72653173]
PMID:22057139 [rs1107946,rs1800012]
PMID:23941072 [rs113647555]
PMID:17557158 [rs1107946,rs2075555,rs2269336]
PMID:17903305 [rs2075555]
PMID:29088884 [rs1800012]
PMID:16804049 [rs1107946,rs1800012,rs2412298]
PMID:15728585 [rs67828806]
PMID:19379518 [rs1800012]
PMID:19260140 [rs2075555]
PMID:17078022 [rs72645328,rs72645357]
PMID:24072491 [rs1061970,rs2075559]
PMID:18996919 [rs1800215,rs2586494]
PMID:25562121 [rs1061237,rs2586488]
PMID:29799806 [rs1800012,rs2249492]
PMID:22022476 [rs2075555]
PMID:22190259 [rs1107946,rs11327935,rs1800012]
PMID:18353721 [rs1800012]
PMID:22066665 [rs1107946,rs1800012]
PMID:19016596 [rs1107946,rs1800012,rs2412298]
PMID:18787887 [rs1107946,rs1800012]
PMID:19152976 [rs1800215]
PMID:15241796 [rs72653173]
PMID:21396799 [rs1800012]
PMID:21269451 [rs1107946,rs1800012,rs2412298]
PMID:17903296 [rs1107946,rs11327935,rs1800012,rs2075555]
PMID:17697348 [rs1007086,rs1107946]
PMID:19358256 [rs72667023]
PMID:27917384 [rs1800012]
PMID:7942841 [rs72648320]
PMID:20617897 [rs1007086,rs17639446,rs2141279]
PMID:17303000 [rs1107946,rs1800012]
PMID:21791674 [rs2075555]
PMID:18836165 [rs2075555,rs2269336]
PMID:15157284 [rs1107946,rs1800012,rs1800215]
PMID:16786509 [rs193922153]
PMID:28206959 [rs1800012]
PMID:19841454 [rs1800012]
PMID:8669434 [rs72645357]
PMID:2037280 [rs72645357]
PMID:15113403 [rs1107946,rs1800012,rs1800215]
PMID:22174012 [rs1107946,rs1800012]
PMID:11113887 [rs72653173]
PMID:19193663 [rs1800012]
PMID:20015871 [rs1800012]
PMID:21777208 [rs11327935]
PMID:22219633 [rs2075555,rs2269336]
PMID:24528085 [rs2075555]
PMID:21602843 [rs2075554,rs2586494]
PMID:19180518 [rs2075555]
PMID:20798928 [rs1107946,rs1800012,rs2412298]
PMID:15024745 [rs72653173]
PMID:2857713 [HGNC]
Other References
-
SNPedia=COL1A1
EntrezGene=1277
PheGenI=1277
ClinVar=COL1A1
GeneCards=COL1A1
Wikipedia=COL1A1
Google=COL1A1
UniProt=P02452
Ensembl=ENSG00000108821
OMIM=120150