rs143985153
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs143985153(A;G) |
Make rs143985153(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 10142116 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs143985153 |
dbSNP (classic) | rs143985153 |
ClinGen | rs143985153 |
ebi | rs143985153 |
HLI | rs143985153 |
Exac | rs143985153 |
Gnomad | rs143985153 |
Varsome | rs143985153 |
LitVar | rs143985153 |
Map | rs143985153 |
PheGenI | rs143985153 |
Biobank | rs143985153 |
1000 genomes | rs143985153 |
hgdp | rs143985153 |
ensembl | rs143985153 |
geneview | rs143985153 |
scholar | rs143985153 |
rs143985153 | |
pharmgkb | rs143985153 |
gwascentral | rs143985153 |
openSNP | rs143985153 |
23andMe | rs143985153 |
SNPshot | rs143985153 |
SNPdbe | rs143985153 |
MSV3d | rs143985153 |
GWAS Ctlg | rs143985153 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs143985153(G;G) rs143985153(T;T) |
Alt | rs143985153(G;G) rs143985153(T;T) |
Reference | Rs143985153(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | not provided Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183800A>G; NC_000003.11:g.10183800A>T |
CLNSRC | |
CLNACC | RCV000034799.1, RCV000208809.1, |