rs587777738
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777738(A;A) |
Make rs587777738(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 101632325 |
Gene | GRHL2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777738 |
dbSNP (classic) | rs587777738 |
ClinGen | rs587777738 |
ebi | rs587777738 |
HLI | rs587777738 |
Exac | rs587777738 |
Gnomad | rs587777738 |
Varsome | rs587777738 |
LitVar | rs587777738 |
Map | rs587777738 |
PheGenI | rs587777738 |
Biobank | rs587777738 |
1000 genomes | rs587777738 |
hgdp | rs587777738 |
ensembl | rs587777738 |
geneview | rs587777738 |
scholar | rs587777738 |
rs587777738 | |
pharmgkb | rs587777738 |
gwascentral | rs587777738 |
openSNP | rs587777738 |
23andMe | rs587777738 |
SNPshot | rs587777738 |
SNPdbe | rs587777738 |
MSV3d | rs587777738 |
GWAS Ctlg | rs587777738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777738(A;A) |
Alt | rs587777738(A;A) |
Reference | Rs587777738(T;T) |
Significance | Pathogenic |
Disease | Ectodermal dysplasia/short stature syndrome |
Variation | info |
Gene | GRHL2 |
CLNDBN | Ectodermal dysplasia/short stature syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.102644553T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144238.3, |