rs864309502
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864309502(A;A) |
Make rs864309502(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35067903 |
Gene | VCP |
is a | snp |
is | mentioned by |
dbSNP | rs864309502 |
dbSNP (classic) | rs864309502 |
ClinGen | rs864309502 |
ebi | rs864309502 |
HLI | rs864309502 |
Exac | rs864309502 |
Gnomad | rs864309502 |
Varsome | rs864309502 |
LitVar | rs864309502 |
Map | rs864309502 |
PheGenI | rs864309502 |
Biobank | rs864309502 |
1000 genomes | rs864309502 |
hgdp | rs864309502 |
ensembl | rs864309502 |
geneview | rs864309502 |
scholar | rs864309502 |
rs864309502 | |
pharmgkb | rs864309502 |
gwascentral | rs864309502 |
openSNP | rs864309502 |
23andMe | rs864309502 |
SNPshot | rs864309502 |
SNPdbe | rs864309502 |
MSV3d | rs864309502 |
GWAS Ctlg | rs864309502 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309502(A;A) |
Alt | rs864309502(A;A) |
Reference | Rs864309502(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | VCP |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2y |
Reversed | 1 |
HGVS | NC_000009.11:g.35067900C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202492.2, |