rs141703746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs141703746(G;G) |
Make rs141703746(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 99275256 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs141703746 |
dbSNP (classic) | rs141703746 |
ClinGen | rs141703746 |
ebi | rs141703746 |
HLI | rs141703746 |
Exac | rs141703746 |
Gnomad | rs141703746 |
Varsome | rs141703746 |
LitVar | rs141703746 |
Map | rs141703746 |
PheGenI | rs141703746 |
Biobank | rs141703746 |
1000 genomes | rs141703746 |
hgdp | rs141703746 |
ensembl | rs141703746 |
geneview | rs141703746 |
scholar | rs141703746 |
rs141703746 | |
pharmgkb | rs141703746 |
gwascentral | rs141703746 |
openSNP | rs141703746 |
23andMe | rs141703746 |
SNPshot | rs141703746 |
SNPdbe | rs141703746 |
MSV3d | rs141703746 |
GWAS Ctlg | rs141703746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141703746(C;C) rs141703746(G;G) |
Alt | rs141703746(C;C) rs141703746(G;G) |
Reference | Rs141703746(T;T) |
Significance | Probable-Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100287484T>C |
CLNSRC | |
CLNACC | RCV000410018.1, |