rs74315389
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315389(A;A) |
Make rs74315389(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 35433944 |
Gene | GDF5 |
is a | snp |
is | mentioned by |
dbSNP | rs74315389 |
dbSNP (classic) | rs74315389 |
ClinGen | rs74315389 |
ebi | rs74315389 |
HLI | rs74315389 |
Exac | rs74315389 |
Gnomad | rs74315389 |
Varsome | rs74315389 |
LitVar | rs74315389 |
Map | rs74315389 |
PheGenI | rs74315389 |
Biobank | rs74315389 |
1000 genomes | rs74315389 |
hgdp | rs74315389 |
ensembl | rs74315389 |
geneview | rs74315389 |
scholar | rs74315389 |
rs74315389 | |
pharmgkb | rs74315389 |
gwascentral | rs74315389 |
openSNP | rs74315389 |
23andMe | rs74315389 |
SNPshot | rs74315389 |
SNPdbe | rs74315389 |
MSV3d | rs74315389 |
GWAS Ctlg | rs74315389 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315389(A;A) |
Alt | rs74315389(A;A) |
Reference | Rs74315389(G;G) |
Significance | Pathogenic |
Disease | Symphalangism |
Variation | info |
Gene | GDF5 |
CLNDBN | Symphalangism, proximal, 1b |
Reversed | 1 |
HGVS | NC_000020.10:g.34021742C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008897.4, |