rs367545984
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs367545984(A;A) |
Make rs367545984(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 10149879 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs367545984 |
dbSNP (classic) | rs367545984 |
ClinGen | rs367545984 |
ebi | rs367545984 |
HLI | rs367545984 |
Exac | rs367545984 |
Gnomad | rs367545984 |
Varsome | rs367545984 |
LitVar | rs367545984 |
Map | rs367545984 |
PheGenI | rs367545984 |
Biobank | rs367545984 |
1000 genomes | rs367545984 |
hgdp | rs367545984 |
ensembl | rs367545984 |
geneview | rs367545984 |
scholar | rs367545984 |
rs367545984 | |
pharmgkb | rs367545984 |
gwascentral | rs367545984 |
openSNP | rs367545984 |
23andMe | rs367545984 |
SNPshot | rs367545984 |
SNPdbe | rs367545984 |
MSV3d | rs367545984 |
GWAS Ctlg | rs367545984 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs367545984(A;A) rs367545984(T;T) |
Alt | rs367545984(A;A) rs367545984(T;T) |
Reference | Rs367545984(G;G) |
Significance | Probable-Pathogenic |
Disease | Von Hippel-Lindau syndrome not specified not provided |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome not specified not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.10191563G>A; NC_000003.11:g.10191563G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148924.1, RCV000235746.1, RCV000432980.1, |