Table 2 MC1R variants
From: Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability
Variant | A1 | Consequence | MAF | OR (initial) | Classification |
|---|---|---|---|---|---|
rs3212379* | T | Upstream | 0.010 | 5.28 | Strong-R |
rs1805005 | T | V60L | 0.121 | 0.32 | Weak-r |
rs34474212 | C | S83P | 7×10−5 | 5.06 | Strong-R |
rs1805006 | A | D84E | 0.009 | 2.97 | Strong-R |
rs2228479 | A | V92M | 0.099 | 0.11 | Weak-r |
rs34158934 | T | T95M | 3×10−4 | 5.52 | Strong-R |
rs11547464 | A | R142H | 0.007 | 4.17 | Strong-R |
rs1805007 | T | R151C | 0.105 | 10.98 | Strong-R |
rs201326893 | A | Y152X | 2×10−4 | 8.12 | Strong-R |
rs1110400 | C | I155T | 0.009 | 1.14 | Weak-r |
rs1805008 | T | R160W | 0.091 | 4.16 | Strong-R |
rs885479 | A | R163Q | 0.040 | 0.16 | Weak-r |
rs555179612 | TC | I182Hfs | 0.002 | 8.75 | Strong-R |
rs200000734* | T | R213W | 6×10−4 | 2.07 | Strong-R |
rs1805009 | C | D294H | 0.022 | 5.21 | Strong-R |
rs368507952* | A | R306H | 3×10−4 | 7.42 | Strong-R |
