Trait
SNPs associated with Abnormality of skin pigmentation
27 genetic variants across 15 genes have been associated with Abnormality of skin pigmentation in published research. Key genes include DEF8, HERC2, IRF4.
Associated variants27 total
| rsid | Gene | Effect | Evidence |
|---|---|---|---|
| rs728404 | OCA2 | GWAS association (p=1.0e-62) | Large GWAS |
| rs10173066 | LINC00486 | GWAS association (p=2.0e-16) | Large GWAS |
| rs4268748 | DEF8 | GWAS association (p=3.0e-15) | Large GWAS |
| rs10929285 | — | GWAS association (p=6.0e-15) | Large GWAS |
| rs3773364 | SYN2 | GWAS association (p=3.0e-14) | Large GWAS |
| rs1667392 | HERC2 | GWAS association (p=4.0e-14) | Large GWAS |
| rs12203592 | IRF4 | GWAS association (p=7.0e-14) | Large GWAS |
| rs77310623 | RAB32 | GWAS association (p=1.0e-13) | Large GWAS |
| rs6059655 | RALY | GWAS association (p=5.0e-13) | Large GWAS |
| rs800884 | TRPS1 | GWAS association (p=1.0e-11) | Large GWAS |
| rs1805007 | MC1R | GWAS association (p=3.0e-10) | Large GWAS |
| rs183671 | SLC45A2 | GWAS association (p=1.0e-09) | Large GWAS |
| rs12598316 | — | GWAS association (p=5.0e-09) | Large GWAS |
| rs35412 | — | GWAS association (p=3.0e-08) | Large GWAS |
| rs2240751 | MFSD12 | GWAS association (p=3.0e-08) | Large GWAS |
| rs12202284 | — | GWAS association (p=5.0e-08) | Large GWAS |
| rs6689641 | — | GWAS association (p=7.0e-24) | Large GWAS |
| rs72620727 | — | GWAS association (p=3.0e-53) | Large GWAS |
| rs74653330 | OCA2 | GWAS association (p=4.0e-162) | Large GWAS |
| rs33932559 | MC1R | GWAS association (p=4.0e-11) | Large GWAS |
| rs16935073 | — | GWAS association (p=1.0e-34) | Large GWAS |
| rs10846744 | SCARB1 | GWAS association (p=2.0e-59) | Large GWAS |
| rs1834640 | — | GWAS association (p=1.0e-50) | Small GWAS |
| rs2675345 | LOC124903485 | GWAS association (p=3.0e-14) | Small GWAS |
| rs16891982 | SLC45A2 | GWAS association (p=3.0e-11) | Small GWAS |
| rs1042602 | TYR | GWAS association (p=4.0e-10) | Small GWAS |
| rs6602666 | — | GWAS association (p=5.0e-09) | Small GWAS |
Associations aggregated from the GWAS Catalog and curated literature. Informational only — not medical advice.