rs727504649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727504649(A;C) |
Make rs727504649(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 69957104 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs727504649 |
dbSNP (classic) | rs727504649 |
ClinGen | rs727504649 |
ebi | rs727504649 |
HLI | rs727504649 |
Exac | rs727504649 |
Gnomad | rs727504649 |
Varsome | rs727504649 |
LitVar | rs727504649 |
Map | rs727504649 |
PheGenI | rs727504649 |
Biobank | rs727504649 |
1000 genomes | rs727504649 |
hgdp | rs727504649 |
ensembl | rs727504649 |
geneview | rs727504649 |
scholar | rs727504649 |
rs727504649 | |
pharmgkb | rs727504649 |
gwascentral | rs727504649 |
openSNP | rs727504649 |
23andMe | rs727504649 |
SNPshot | rs727504649 |
SNPdbe | rs727504649 |
MSV3d | rs727504649 |
GWAS Ctlg | rs727504649 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504649(C;C) |
Alt | rs727504649(C;C) |
Reference | Rs727504649(A;A) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.69176954A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000155912.1, |