rs121909329
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909329(A;A) |
Make rs121909329(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 35065363 |
Gene | VCP |
is a | snp |
is | mentioned by |
dbSNP | rs121909329 |
dbSNP (classic) | rs121909329 |
ClinGen | rs121909329 |
ebi | rs121909329 |
HLI | rs121909329 |
Exac | rs121909329 |
Gnomad | rs121909329 |
Varsome | rs121909329 |
LitVar | rs121909329 |
Map | rs121909329 |
PheGenI | rs121909329 |
Biobank | rs121909329 |
1000 genomes | rs121909329 |
hgdp | rs121909329 |
ensembl | rs121909329 |
geneview | rs121909329 |
scholar | rs121909329 |
rs121909329 | |
pharmgkb | rs121909329 |
gwascentral | rs121909329 |
openSNP | rs121909329 |
23andMe | rs121909329 |
SNPshot | rs121909329 |
SNPdbe | rs121909329 |
MSV3d | rs121909329 |
GWAS Ctlg | rs121909329 |
Merged from | Rs121909333 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909329(A;A) rs121909329(C;C) |
Alt | rs121909329(A;A) rs121909329(C;C) |
Reference | Rs121909329(G;G) |
Significance | Pathogenic |
Disease | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia |
Variation | info |
Gene | VCP |
CLNDBN | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia |
Reversed | 1 |
HGVS | NC_000009.11:g.35065360C>G; NC_000009.11:g.35065360C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008993.4, RCV000008989.2, |