rs397514666
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514666(A;A) |
Make rs397514666(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 13875031 |
Gene | WNT7A |
is a | snp |
is | mentioned by |
dbSNP | rs397514666 |
dbSNP (classic) | rs397514666 |
ClinGen | rs397514666 |
ebi | rs397514666 |
HLI | rs397514666 |
Exac | rs397514666 |
Gnomad | rs397514666 |
Varsome | rs397514666 |
LitVar | rs397514666 |
Map | rs397514666 |
PheGenI | rs397514666 |
Biobank | rs397514666 |
1000 genomes | rs397514666 |
hgdp | rs397514666 |
ensembl | rs397514666 |
geneview | rs397514666 |
scholar | rs397514666 |
rs397514666 | |
pharmgkb | rs397514666 |
gwascentral | rs397514666 |
openSNP | rs397514666 |
23andMe | rs397514666 |
SNPshot | rs397514666 |
SNPdbe | rs397514666 |
MSV3d | rs397514666 |
GWAS Ctlg | rs397514666 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514666(A;A) |
Alt | rs397514666(A;A) |
Reference | Rs397514666(G;G) |
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.13916528C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033263.4, |