rs121913346

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	7	Von Hippel-Lindau syndrome mutation
(C;T)	7	Von Hippel-Lindau syndrome mutation
(T;T)	0	common in clinvar

Make rs121913346(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

10149796

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs121913346
dbSNP (classic)	rs121913346
ClinGen	rs121913346
ebi	rs121913346
HLI	rs121913346
Exac	rs121913346
Gnomad	rs121913346
Varsome	rs121913346
LitVar	rs121913346
Map	rs121913346
PheGenI	rs121913346
Biobank	rs121913346
1000 genomes	rs121913346
hgdp	rs121913346
ensembl	rs121913346
geneview	rs121913346
scholar	rs121913346
google	rs121913346
pharmgkb	rs121913346
gwascentral	rs121913346
openSNP	rs121913346
23andMe	rs121913346
SNPshot	rs121913346
SNPdbe	rs121913346
MSV3d	rs121913346
GWAS Ctlg	rs121913346

Max Magnitude

7

ClinVar
Risk	rs121913346(A;A) rs121913346(C;C)
Alt	rs121913346(A;A) rs121913346(C;C)
Reference	Rs121913346(T;T)
Significance	Pathogenic
Disease	Renal cell carcinoma not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Renal cell carcinoma not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10191480T>A; NC_000003.11:g.10191480T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000428620.1, RCV000161088.2, RCV000208846.1, RCV000492547.1,