rs121912994
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121912994(A;A) |
Make rs121912994(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7574786 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs121912994 |
dbSNP (classic) | rs121912994 |
ClinGen | rs121912994 |
ebi | rs121912994 |
HLI | rs121912994 |
Exac | rs121912994 |
Gnomad | rs121912994 |
Varsome | rs121912994 |
LitVar | rs121912994 |
Map | rs121912994 |
PheGenI | rs121912994 |
Biobank | rs121912994 |
1000 genomes | rs121912994 |
hgdp | rs121912994 |
ensembl | rs121912994 |
geneview | rs121912994 |
scholar | rs121912994 |
rs121912994 | |
pharmgkb | rs121912994 |
gwascentral | rs121912994 |
openSNP | rs121912994 |
23andMe | rs121912994 |
SNPshot | rs121912994 |
SNPdbe | rs121912994 |
MSV3d | rs121912994 |
GWAS Ctlg | rs121912994 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912994(A;A) |
Alt | rs121912994(A;A) |
Reference | Rs121912994(T;T) |
Significance | Pathogenic |
Disease | Skin fragility woolly hair syndrome |
Variation | info |
Gene | DSP |
CLNDBN | Skin fragility woolly hair syndrome |
Reversed | 0 |
HGVS | NC_000006.11:g.7575019T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018334.29, |