rs864321641
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs864321641(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 10149802 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs864321641 |
dbSNP (classic) | rs864321641 |
ClinGen | rs864321641 |
ebi | rs864321641 |
HLI | rs864321641 |
Exac | rs864321641 |
Gnomad | rs864321641 |
Varsome | rs864321641 |
LitVar | rs864321641 |
Map | rs864321641 |
PheGenI | rs864321641 |
Biobank | rs864321641 |
1000 genomes | rs864321641 |
hgdp | rs864321641 |
ensembl | rs864321641 |
geneview | rs864321641 |
scholar | rs864321641 |
rs864321641 | |
pharmgkb | rs864321641 |
gwascentral | rs864321641 |
openSNP | rs864321641 |
23andMe | rs864321641 |
SNPshot | rs864321641 |
SNPdbe | rs864321641 |
MSV3d | rs864321641 |
GWAS Ctlg | rs864321641 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs864321641(T;T) |
Alt | rs864321641(T;T) |
Reference | Rs864321641(A;A) |
Significance | Probable-Pathogenic |
Disease | Pheochromocytoma |
Variation | info |
Gene | VHL |
CLNDBN | Pheochromocytoma |
Reversed | 0 |
HGVS | NC_000003.11:g.10191486A>T |
CLNSRC | Seth G.S. Medical College and K.E.M. Hospital |
CLNACC | RCV000203510.1, |