rs879255552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255552(A;T) |
Make rs879255552(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 70030482 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs879255552 |
dbSNP (classic) | rs879255552 |
ClinGen | rs879255552 |
ebi | rs879255552 |
HLI | rs879255552 |
Exac | rs879255552 |
Gnomad | rs879255552 |
Varsome | rs879255552 |
LitVar | rs879255552 |
Map | rs879255552 |
PheGenI | rs879255552 |
Biobank | rs879255552 |
1000 genomes | rs879255552 |
hgdp | rs879255552 |
ensembl | rs879255552 |
geneview | rs879255552 |
scholar | rs879255552 |
rs879255552 | |
pharmgkb | rs879255552 |
gwascentral | rs879255552 |
openSNP | rs879255552 |
23andMe | rs879255552 |
SNPshot | rs879255552 |
SNPdbe | rs879255552 |
MSV3d | rs879255552 |
GWAS Ctlg | rs879255552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255552(T;T) |
Alt | rs879255552(T;T) |
Reference | Rs879255552(A;A) |
Significance | Pathogenic |
Disease | Hypohidrotic X-linked ectodermal dysplasia |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic X-linked ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.69250332A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239466.1, |