rs104893831
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs104893831(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 10146549 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs104893831 |
dbSNP (classic) | rs104893831 |
ClinGen | rs104893831 |
ebi | rs104893831 |
HLI | rs104893831 |
Exac | rs104893831 |
Gnomad | rs104893831 |
Varsome | rs104893831 |
LitVar | rs104893831 |
Map | rs104893831 |
PheGenI | rs104893831 |
Biobank | rs104893831 |
1000 genomes | rs104893831 |
hgdp | rs104893831 |
ensembl | rs104893831 |
geneview | rs104893831 |
scholar | rs104893831 |
rs104893831 | |
pharmgkb | rs104893831 |
gwascentral | rs104893831 |
openSNP | rs104893831 |
23andMe | rs104893831 |
SNPshot | rs104893831 |
SNPdbe | rs104893831 |
MSV3d | rs104893831 |
GWAS Ctlg | rs104893831 |
Max Magnitude | 7 |
aka c.376G>T (p.Asp126Tyr or D126Y), which is the pathogenic variant; note also that c.376G>A (p.Asp126Asn) and c.376G>C (p.Asp126His) are known, but their pathogenicity is uncertain according to ClinVar submitters
23andMe name for c.376G>T: i5006379
ClinVar | |
---|---|
Risk | rs104893831(A;A) rs104893831(T;T) |
Alt | rs104893831(A;A) rs104893831(T;T) |
Reference | Rs104893831(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Erythrocytosis |
Variation | info |
Gene | VHL |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Erythrocytosis, familial, 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.10188233G>A; NC_000003.11:g.10188233G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000129380.2, RCV000236702.1, RCV000002318.3, |