rs180177357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs180177357(-;GCTC) |
Make rs180177357(GCTC;GCTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99275160 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs180177357 |
dbSNP (classic) | rs180177357 |
ClinGen | rs180177357 |
ebi | rs180177357 |
HLI | rs180177357 |
Exac | rs180177357 |
Gnomad | rs180177357 |
Varsome | rs180177357 |
LitVar | rs180177357 |
Map | rs180177357 |
PheGenI | rs180177357 |
Biobank | rs180177357 |
1000 genomes | rs180177357 |
hgdp | rs180177357 |
ensembl | rs180177357 |
geneview | rs180177357 |
scholar | rs180177357 |
rs180177357 | |
pharmgkb | rs180177357 |
gwascentral | rs180177357 |
openSNP | rs180177357 |
23andMe | rs180177357 |
SNPshot | rs180177357 |
SNPdbe | rs180177357 |
MSV3d | rs180177357 |
GWAS Ctlg | rs180177357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177357(GCTC;GCTC) |
Alt | rs180177357(GCTC;GCTC) |
Reference | Rs180177357(-;-) |
Significance | Pathogenic |
Disease | Cohen syndrome not provided |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.100287385_100287388dupGCTC |
CLNSRC | ClinVar |
CLNACC | RCV000050067.1, RCV000058893.1, |
[PMID 16648375] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
[PMID 15154116
] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.