rs137852904
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852904(G;T) |
Make rs137852904(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 80036011 |
Gene | ANTXR2 |
is a | snp |
is | mentioned by |
dbSNP | rs137852904 |
dbSNP (classic) | rs137852904 |
ClinGen | rs137852904 |
ebi | rs137852904 |
HLI | rs137852904 |
Exac | rs137852904 |
Gnomad | rs137852904 |
Varsome | rs137852904 |
LitVar | rs137852904 |
Map | rs137852904 |
PheGenI | rs137852904 |
Biobank | rs137852904 |
1000 genomes | rs137852904 |
hgdp | rs137852904 |
ensembl | rs137852904 |
geneview | rs137852904 |
scholar | rs137852904 |
rs137852904 | |
pharmgkb | rs137852904 |
gwascentral | rs137852904 |
openSNP | rs137852904 |
23andMe | rs137852904 |
SNPshot | rs137852904 |
SNPdbe | rs137852904 |
MSV3d | rs137852904 |
GWAS Ctlg | rs137852904 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852904(A;A) rs137852904(T;T) |
Alt | rs137852904(A;A) rs137852904(T;T) |
Reference | Rs137852904(G;G) |
Significance | Pathogenic |
Disease | Hyaline fibromatosis syndrome |
Variation | info |
Gene | ANTXR2 |
CLNDBN | Hyaline fibromatosis syndrome |
Reversed | 1 |
HGVS | NC_000004.11:g.80957165C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002720.2, |