rs104893835
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893835(C;T) |
Make rs104893835(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 13819120 |
Gene | WNT7A |
is a | snp |
is | mentioned by |
dbSNP | rs104893835 |
dbSNP (classic) | rs104893835 |
ClinGen | rs104893835 |
ebi | rs104893835 |
HLI | rs104893835 |
Exac | rs104893835 |
Gnomad | rs104893835 |
Varsome | rs104893835 |
LitVar | rs104893835 |
Map | rs104893835 |
PheGenI | rs104893835 |
Biobank | rs104893835 |
1000 genomes | rs104893835 |
hgdp | rs104893835 |
ensembl | rs104893835 |
geneview | rs104893835 |
scholar | rs104893835 |
rs104893835 | |
pharmgkb | rs104893835 |
gwascentral | rs104893835 |
openSNP | rs104893835 |
23andMe | rs104893835 |
SNPshot | rs104893835 |
SNPdbe | rs104893835 |
MSV3d | rs104893835 |
GWAS Ctlg | rs104893835 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893835(T;T) |
Alt | rs104893835(T;T) |
Reference | Rs104893835(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.13860617G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008526.3, |