Table 2 Variants found in the resequencing of DKK1.
From: Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
Variant definition | rs Number | Type | MAF (EUR) | Number of alleles | Functional prediction | ||
|---|---|---|---|---|---|---|---|
DKK1 | HBM | LBM | |||||
g.54073904dupC | g.54073904dupC | rs3456455 | 5′UP | 0.012 (C) | 3 | 5 | |
g.54074079 C > A | c.−116C > A | rs540255939 | 5′UTR | 0.001 (A) | 0 | 1 | |
g.57074660 C > T | c.244-23 C > T | rs41281546 | I | 0.056 (T) | 8 | 12 | eQTL |
g.54074757 A > G | p.Ala106Ala | rs2241529 | S | 0.458 (A) | 36 | 39 | |
g.54074798 G > T | p.Arg120Leu | rs149268042 | M | 0.008(T) | 1 | 0 | D/PD/DC |
g.54075040 G > A | c.406 + 195 G > A | — | I | — | 1 | 0 | |
g.54075127 T > C | c.406 + 282 T > C | rs11001560 | I | 0.445 (T) | 28 | 39 | |
g.54076271 A > G | c.548-43 A > G | rs1569198 | I | 0.51 (A) | 45 | 52 | eQTL; Splicing |
g.54076649 A > G | c.*82 A > G | rs74711339 | 3′UTR | 0.043 (G) | 5 | 11 | eQTL |
g.54076944delT | c.*377delT | rs200054686 | 3′UTR | 0 (-) | 0 | 1 | |
g.54077319 C > T | c.*752 C > T | rs953208416 | 3′UTR | — | 1 | 0 | |
g.54077322 G > A | c.*755 G > A | rs79759877 | 3′UTR | 0 (A) | 1 | 0 | |
g.54077566_54077571delCAGTATinsTAA | g.54077566_54077571delCAGTATinsTAA | rs386743716 | 3′ D | — | 8 | 13 | |
g.54077585 G > A | g.54077585 G > A | rs549135224 | 3′ D | 0.001 (A) | 2 | 0 | |
