rs121909330
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909330(C;T) |
Make rs121909330(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 35065364 |
Gene | VCP |
is a | snp |
is | mentioned by |
dbSNP | rs121909330 |
dbSNP (classic) | rs121909330 |
ClinGen | rs121909330 |
ebi | rs121909330 |
HLI | rs121909330 |
Exac | rs121909330 |
Gnomad | rs121909330 |
Varsome | rs121909330 |
LitVar | rs121909330 |
Map | rs121909330 |
PheGenI | rs121909330 |
Biobank | rs121909330 |
1000 genomes | rs121909330 |
hgdp | rs121909330 |
ensembl | rs121909330 |
geneview | rs121909330 |
scholar | rs121909330 |
rs121909330 | |
pharmgkb | rs121909330 |
gwascentral | rs121909330 |
openSNP | rs121909330 |
23andMe | rs121909330 |
SNPshot | rs121909330 |
SNPdbe | rs121909330 |
MSV3d | rs121909330 |
GWAS Ctlg | rs121909330 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909330(G;G) rs121909330(T;T) |
Alt | rs121909330(G;G) rs121909330(T;T) |
Reference | Rs121909330(C;C) |
Significance | Pathogenic |
Disease | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia not provided |
Variation | info |
Gene | VCP |
CLNDBN | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.35065361G>A; NC_000009.11:g.35065361G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008990.4, RCV000372207.1, RCV000196145.1, RCV000494556.1, |