rs606231274
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231274(-;GCCT) |
Make rs606231274(GCCT;GCCT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 31117447 |
Gene | CDSN, PSORS1C1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231274 |
dbSNP (classic) | rs606231274 |
ClinGen | rs606231274 |
ebi | rs606231274 |
HLI | rs606231274 |
Exac | rs606231274 |
Gnomad | rs606231274 |
Varsome | rs606231274 |
LitVar | rs606231274 |
Map | rs606231274 |
PheGenI | rs606231274 |
Biobank | rs606231274 |
1000 genomes | rs606231274 |
hgdp | rs606231274 |
ensembl | rs606231274 |
geneview | rs606231274 |
scholar | rs606231274 |
rs606231274 | |
pharmgkb | rs606231274 |
gwascentral | rs606231274 |
openSNP | rs606231274 |
23andMe | rs606231274 |
SNPshot | rs606231274 |
SNPdbe | rs606231274 |
MSV3d | rs606231274 |
GWAS Ctlg | rs606231274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231274(GCCT;GCCT) |
Alt | rs606231274(GCCT;GCCT) |
Reference | Rs606231274(-;-) |
Significance | Pathogenic |
Disease | Peeling skin syndrome |
Variation | info |
Gene | CDSN PSORS1C1 |
CLNDBN | Peeling skin syndrome |
Reversed | 1 |
HGVS | NC_000006.11:g.31085225_31085228dupAGGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144908.4, |