rs397515575
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AACGGT;AACGGT) | 0 | common in clinvar |
Make rs397515575(-;-) |
Make rs397515575(-;AACGGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 236482403 |
Gene | EDARADD |
is a | snp |
is | mentioned by |
dbSNP | rs397515575 |
dbSNP (classic) | rs397515575 |
ClinGen | rs397515575 |
ebi | rs397515575 |
HLI | rs397515575 |
Exac | rs397515575 |
Gnomad | rs397515575 |
Varsome | rs397515575 |
LitVar | rs397515575 |
Map | rs397515575 |
PheGenI | rs397515575 |
Biobank | rs397515575 |
1000 genomes | rs397515575 |
hgdp | rs397515575 |
ensembl | rs397515575 |
geneview | rs397515575 |
scholar | rs397515575 |
rs397515575 | |
pharmgkb | rs397515575 |
gwascentral | rs397515575 |
openSNP | rs397515575 |
23andMe | rs397515575 |
SNPshot | rs397515575 |
SNPdbe | rs397515575 |
MSV3d | rs397515575 |
GWAS Ctlg | rs397515575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515575(-;-) |
Alt | rs397515575(-;-) |
Reference | Rs397515575(AACGGT;AACGGT) |
Significance | Pathogenic |
Disease | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Variation | info |
Gene | EDARADD |
CLNDBN | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.236645703_236645708delAACGGT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055986.1, |