rs132630315
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs132630315(C;T) |
Make rs132630315(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 70027956 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs132630315 |
dbSNP (classic) | rs132630315 |
ClinGen | rs132630315 |
ebi | rs132630315 |
HLI | rs132630315 |
Exac | rs132630315 |
Gnomad | rs132630315 |
Varsome | rs132630315 |
LitVar | rs132630315 |
Map | rs132630315 |
PheGenI | rs132630315 |
Biobank | rs132630315 |
1000 genomes | rs132630315 |
hgdp | rs132630315 |
ensembl | rs132630315 |
geneview | rs132630315 |
scholar | rs132630315 |
rs132630315 | |
pharmgkb | rs132630315 |
gwascentral | rs132630315 |
openSNP | rs132630315 |
23andMe | rs132630315 |
SNPshot | rs132630315 |
SNPdbe | rs132630315 |
MSV3d | rs132630315 |
GWAS Ctlg | rs132630315 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs132630315(T;T) |
Alt | rs132630315(T;T) |
Reference | Rs132630315(C;C) |
Significance | Pathogenic |
Disease | Hypohidrotic X-linked ectodermal dysplasia not specified |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic X-linked ectodermal dysplasia not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.69247806C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011785.7, RCV000154610.1, |