rs727504215
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs727504215(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 10146524 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs727504215 |
dbSNP (classic) | rs727504215 |
ClinGen | rs727504215 |
ebi | rs727504215 |
HLI | rs727504215 |
Exac | rs727504215 |
Gnomad | rs727504215 |
Varsome | rs727504215 |
LitVar | rs727504215 |
Map | rs727504215 |
PheGenI | rs727504215 |
Biobank | rs727504215 |
1000 genomes | rs727504215 |
hgdp | rs727504215 |
ensembl | rs727504215 |
geneview | rs727504215 |
scholar | rs727504215 |
rs727504215 | |
pharmgkb | rs727504215 |
gwascentral | rs727504215 |
openSNP | rs727504215 |
23andMe | rs727504215 |
SNPshot | rs727504215 |
SNPdbe | rs727504215 |
MSV3d | rs727504215 |
GWAS Ctlg | rs727504215 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs727504215(T;T) |
Alt | rs727504215(T;T) |
Reference | Rs727504215(G;G) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10188208G>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000154124.4, |