rs727503744
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCGCGCACGCAGCTCCGCCCC;GCGCGCACGCAGCTCCGCCCC) | 0 | common in clinvar |
Make rs727503744(-;-) |
Make rs727503744(-;CGCACGCAGCTCCGCCCCGCG) |
Make rs727503744(CGCACGCAGCTCCGCCCCGCG;CGCACGCAGCTCCGCCCCGCG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 10141773 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs727503744 |
dbSNP (classic) | rs727503744 |
ClinGen | rs727503744 |
ebi | rs727503744 |
HLI | rs727503744 |
Exac | rs727503744 |
Gnomad | rs727503744 |
Varsome | rs727503744 |
LitVar | rs727503744 |
Map | rs727503744 |
PheGenI | rs727503744 |
Biobank | rs727503744 |
1000 genomes | rs727503744 |
hgdp | rs727503744 |
ensembl | rs727503744 |
geneview | rs727503744 |
scholar | rs727503744 |
rs727503744 | |
pharmgkb | rs727503744 |
gwascentral | rs727503744 |
openSNP | rs727503744 |
23andMe | rs727503744 |
SNPshot | rs727503744 |
SNPdbe | rs727503744 |
MSV3d | rs727503744 |
GWAS Ctlg | rs727503744 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503744(-;-) |
Alt | rs727503744(-;-) |
Reference | Rs727503744(GCGCGCACGCAGCTCCGCCCC;GCGCGCACGCAGCTCCGCCCC) |
Significance | Probable-Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183457_10183477del21 |
CLNSRC | |
CLNACC | RCV000152657.1, |