rs201992075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201992075(C;T) |
Make rs201992075(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 6581131 |
Gene | CHD4, SCARNA11 |
is a | snp |
is | mentioned by |
dbSNP | rs201992075 |
dbSNP (classic) | rs201992075 |
ClinGen | rs201992075 |
ebi | rs201992075 |
HLI | rs201992075 |
Exac | rs201992075 |
Gnomad | rs201992075 |
Varsome | rs201992075 |
LitVar | rs201992075 |
Map | rs201992075 |
PheGenI | rs201992075 |
Biobank | rs201992075 |
1000 genomes | rs201992075 |
hgdp | rs201992075 |
ensembl | rs201992075 |
geneview | rs201992075 |
scholar | rs201992075 |
rs201992075 | |
pharmgkb | rs201992075 |
gwascentral | rs201992075 |
openSNP | rs201992075 |
23andMe | rs201992075 |
SNPshot | rs201992075 |
SNPdbe | rs201992075 |
MSV3d | rs201992075 |
GWAS Ctlg | rs201992075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201992075(T;T) |
Alt | rs201992075(T;T) |
Reference | Rs201992075(C;C) |
Significance | Pathogenic |
Disease | Sifrim-Hitz-Weiss syndrome |
Variation | info |
Gene | SCARNA11 CHD4 |
CLNDBN | Sifrim-Hitz-Weiss syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.6690297C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000257639.1, |