rs397516675
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516675(G;T) |
Make rs397516675(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 70033426 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs397516675 |
dbSNP (classic) | rs397516675 |
ClinGen | rs397516675 |
ebi | rs397516675 |
HLI | rs397516675 |
Exac | rs397516675 |
Gnomad | rs397516675 |
Varsome | rs397516675 |
LitVar | rs397516675 |
Map | rs397516675 |
PheGenI | rs397516675 |
Biobank | rs397516675 |
1000 genomes | rs397516675 |
hgdp | rs397516675 |
ensembl | rs397516675 |
geneview | rs397516675 |
scholar | rs397516675 |
rs397516675 | |
pharmgkb | rs397516675 |
gwascentral | rs397516675 |
openSNP | rs397516675 |
23andMe | rs397516675 |
SNPshot | rs397516675 |
SNPdbe | rs397516675 |
MSV3d | rs397516675 |
GWAS Ctlg | rs397516675 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516675(A;A) rs397516675(T;T) |
Alt | rs397516675(A;A) rs397516675(T;T) |
Reference | Rs397516675(G;G) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.69253276G>A; NC_000023.10:g.69253276G>T |
CLNSRC | ClinVar |
CLNACC | RCV000150600.1, RCV000037187.2, |