rs864309501
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864309501(A;A) |
Make rs864309501(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35065274 |
Gene | VCP |
is a | snp |
is | mentioned by |
dbSNP | rs864309501 |
dbSNP (classic) | rs864309501 |
ClinGen | rs864309501 |
ebi | rs864309501 |
HLI | rs864309501 |
Exac | rs864309501 |
Gnomad | rs864309501 |
Varsome | rs864309501 |
LitVar | rs864309501 |
Map | rs864309501 |
PheGenI | rs864309501 |
Biobank | rs864309501 |
1000 genomes | rs864309501 |
hgdp | rs864309501 |
ensembl | rs864309501 |
geneview | rs864309501 |
scholar | rs864309501 |
rs864309501 | |
pharmgkb | rs864309501 |
gwascentral | rs864309501 |
openSNP | rs864309501 |
23andMe | rs864309501 |
SNPshot | rs864309501 |
SNPdbe | rs864309501 |
MSV3d | rs864309501 |
GWAS Ctlg | rs864309501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309501(A;A) |
Alt | rs864309501(A;A) |
Reference | Rs864309501(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.35065271C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202444.2, |