rs727503008
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727503008(-;-) |
Make rs727503008(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 70033413 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs727503008 |
dbSNP (classic) | rs727503008 |
ClinGen | rs727503008 |
ebi | rs727503008 |
HLI | rs727503008 |
Exac | rs727503008 |
Gnomad | rs727503008 |
Varsome | rs727503008 |
LitVar | rs727503008 |
Map | rs727503008 |
PheGenI | rs727503008 |
Biobank | rs727503008 |
1000 genomes | rs727503008 |
hgdp | rs727503008 |
ensembl | rs727503008 |
geneview | rs727503008 |
scholar | rs727503008 |
rs727503008 | |
pharmgkb | rs727503008 |
gwascentral | rs727503008 |
openSNP | rs727503008 |
23andMe | rs727503008 |
SNPshot | rs727503008 |
SNPdbe | rs727503008 |
MSV3d | rs727503008 |
GWAS Ctlg | rs727503008 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503008(-;-) |
Alt | rs727503008(-;-) |
Reference | Rs727503008(T;T) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.69253263delT |
CLNSRC | |
CLNACC | RCV000150599.1, |