View SNVs/InDels
Entrez ID | Gene Symbol | SNP name | Chr | Position | ref | alt | Evidence Number | Total Number of Evidence | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GWAS | Low-Scale Genetic Association Studies | NGS de novo Mutation Studies | NGS Mosaic Mutation Studes | NGS Other Studies | Low-Scale Gene Studies | |||||||||
AutG283450 | C12orf51 | - | 12 | 112600303 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG23316 | CUX2 | - | 12 | 111748483 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG51184 | GPN3 | - | 12 | 110893672 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG488 | ATP2A2 | - | 12 | 110780170 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG488 | ATP2A2 | - | 12 | 110778685 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG9815 | GIT2 | - | 12 | 110397719 | C | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG9815 | GIT2 | - | 12 | 110397718 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG59341 | TRPV4 | - | 12 | 110222127 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG84915 | C12orf34 | - | 12 | 110206986 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG4598 | MVK | - | 12 | 110023830 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG326625 | MMAB | - | 12 | 109996929 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG283446 | MYO1H | - | 12 | 109877458 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG32 | ACACB | - | 12 | 109644616 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG32 | ACACB | - | 12 | 109625794 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG84749 | USP30 | - | 12 | 109510128 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG54434 | SSH1 | - | 12 | 109182009 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG11153 | FICD | - | 12 | 108912728 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG11108 | PRDM4 | - | 12 | 108145614 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG11137 | PWP1 | - | 12 | 108090356 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG121551 | BTBD11 | - | 12 | 107937726 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |