rs397516662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516662(C;T) |
Make rs397516662(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 69957087 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs397516662 |
dbSNP (classic) | rs397516662 |
ClinGen | rs397516662 |
ebi | rs397516662 |
HLI | rs397516662 |
Exac | rs397516662 |
Gnomad | rs397516662 |
Varsome | rs397516662 |
LitVar | rs397516662 |
Map | rs397516662 |
PheGenI | rs397516662 |
Biobank | rs397516662 |
1000 genomes | rs397516662 |
hgdp | rs397516662 |
ensembl | rs397516662 |
geneview | rs397516662 |
scholar | rs397516662 |
rs397516662 | |
pharmgkb | rs397516662 |
gwascentral | rs397516662 |
openSNP | rs397516662 |
23andMe | rs397516662 |
SNPshot | rs397516662 |
SNPdbe | rs397516662 |
MSV3d | rs397516662 |
GWAS Ctlg | rs397516662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516662(T;T) |
Alt | rs397516662(T;T) |
Reference | Rs397516662(C;C) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia not provided |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.69176937C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037169.3, RCV000420111.1, |