rs149660944
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149660944(C;T) |
Make rs149660944(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 33772017 |
Gene | CHST8 |
is a | snp |
is | mentioned by |
dbSNP | rs149660944 |
dbSNP (classic) | rs149660944 |
ClinGen | rs149660944 |
ebi | rs149660944 |
HLI | rs149660944 |
Exac | rs149660944 |
Gnomad | rs149660944 |
Varsome | rs149660944 |
LitVar | rs149660944 |
Map | rs149660944 |
PheGenI | rs149660944 |
Biobank | rs149660944 |
1000 genomes | rs149660944 |
hgdp | rs149660944 |
ensembl | rs149660944 |
geneview | rs149660944 |
scholar | rs149660944 |
rs149660944 | |
pharmgkb | rs149660944 |
gwascentral | rs149660944 |
openSNP | rs149660944 |
23andMe | rs149660944 |
SNPshot | rs149660944 |
SNPdbe | rs149660944 |
MSV3d | rs149660944 |
GWAS Ctlg | rs149660944 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149660944(A;A) rs149660944(T;T) |
Alt | rs149660944(A;A) rs149660944(T;T) |
Reference | Rs149660944(C;C) |
Significance | Pathogenic |
Disease | Peeling skin syndrome 3 |
Variation | info |
Gene | CHST8 |
CLNDBN | Peeling skin syndrome 3 |
Reversed | 0 |
HGVS | NC_000019.9:g.34262922C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162277.3, |