rs879255548
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255548(C;T) |
Make rs879255548(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 13854798 |
Gene | WNT7A |
is a | snp |
is | mentioned by |
dbSNP | rs879255548 |
dbSNP (classic) | rs879255548 |
ClinGen | rs879255548 |
ebi | rs879255548 |
HLI | rs879255548 |
Exac | rs879255548 |
Gnomad | rs879255548 |
Varsome | rs879255548 |
LitVar | rs879255548 |
Map | rs879255548 |
PheGenI | rs879255548 |
Biobank | rs879255548 |
1000 genomes | rs879255548 |
hgdp | rs879255548 |
ensembl | rs879255548 |
geneview | rs879255548 |
scholar | rs879255548 |
rs879255548 | |
pharmgkb | rs879255548 |
gwascentral | rs879255548 |
openSNP | rs879255548 |
23andMe | rs879255548 |
SNPshot | rs879255548 |
SNPdbe | rs879255548 |
MSV3d | rs879255548 |
GWAS Ctlg | rs879255548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255548(T;T) |
Alt | rs879255548(T;T) |
Reference | Rs879255548(C;C) |
Significance | Pathogenic |
Disease | Ulna and fibula absence of with severe limb deficiency |
Variation | info |
Gene | WNT7A |
CLNDBN | Ulna and fibula absence of with severe limb deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.13896295G>A |
CLNSRC | |
CLNACC | RCV000239449.1, |