rs397516668
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGGACCTCCAGGACCCC;CAGGACCTCCAGGACCCC) | 0 | common in clinvar |
(CCTCCAGGACCCCCAGGA;CCTCCAGGACCCCCAGGA) | 0 | common in clinvar |
Make rs397516668(-;-) |
Make rs397516668(-;CAGGACCTCCAGGACCCC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 70027902 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs397516668 |
dbSNP (classic) | rs397516668 |
ClinGen | rs397516668 |
ebi | rs397516668 |
HLI | rs397516668 |
Exac | rs397516668 |
Gnomad | rs397516668 |
Varsome | rs397516668 |
LitVar | rs397516668 |
Map | rs397516668 |
PheGenI | rs397516668 |
Biobank | rs397516668 |
1000 genomes | rs397516668 |
hgdp | rs397516668 |
ensembl | rs397516668 |
geneview | rs397516668 |
scholar | rs397516668 |
rs397516668 | |
pharmgkb | rs397516668 |
gwascentral | rs397516668 |
openSNP | rs397516668 |
23andMe | rs397516668 |
SNPshot | rs397516668 |
SNPdbe | rs397516668 |
MSV3d | rs397516668 |
GWAS Ctlg | rs397516668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516668(-;-) |
Alt | rs397516668(-;-) |
Reference | Rs397516668(CCTCCAGGACCCCCAGGA;CCTCCAGGACCCCCAGGA) |
Significance | Pathogenic |
Disease | Hypohidrotic ectodermal dysplasia not provided |
Variation | info |
Gene | EDA |
CLNDBN | Hypohidrotic ectodermal dysplasia not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.69247752_69247769del18 |
CLNSRC | ClinVar |
CLNACC | RCV000037178.2, RCV000481357.1, |