rs387906789
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906789(C;G) |
Make rs387906789(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 35065352 |
Gene | VCP |
is a | snp |
is | mentioned by |
dbSNP | rs387906789 |
dbSNP (classic) | rs387906789 |
ClinGen | rs387906789 |
ebi | rs387906789 |
HLI | rs387906789 |
Exac | rs387906789 |
Gnomad | rs387906789 |
Varsome | rs387906789 |
LitVar | rs387906789 |
Map | rs387906789 |
PheGenI | rs387906789 |
Biobank | rs387906789 |
1000 genomes | rs387906789 |
hgdp | rs387906789 |
ensembl | rs387906789 |
geneview | rs387906789 |
scholar | rs387906789 |
rs387906789 | |
pharmgkb | rs387906789 |
gwascentral | rs387906789 |
openSNP | rs387906789 |
23andMe | rs387906789 |
SNPshot | rs387906789 |
SNPdbe | rs387906789 |
MSV3d | rs387906789 |
GWAS Ctlg | rs387906789 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906789(G;G) rs387906789(T;T) |
Alt | rs387906789(G;G) rs387906789(T;T) |
Reference | Rs387906789(C;C) |
Significance | Pathogenic |
Disease | not provided Amyotrophic lateral sclerosis 14 |
Variation | info |
Gene | VCP |
CLNDBN | not provided Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia |
Reversed | 1 |
HGVS | NC_000009.11:g.35065349G>A; NC_000009.11:g.35065349G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000333881.1, RCV000023065.4, |