rs5030807

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 rs5030807(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

10142113

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030807
dbSNP (classic)	rs5030807
ClinGen	rs5030807
ebi	rs5030807
HLI	rs5030807
Exac	rs5030807
Gnomad	rs5030807
Varsome	rs5030807
LitVar	rs5030807
Map	rs5030807
PheGenI	rs5030807
Biobank	rs5030807
1000 genomes	rs5030807
hgdp	rs5030807
ensembl	rs5030807
geneview	rs5030807
scholar	rs5030807
google	rs5030807
pharmgkb	rs5030807
gwascentral	rs5030807
openSNP	rs5030807
23andMe	rs5030807
SNPshot	rs5030807
SNPdbe	rs5030807
MSV3d	rs5030807
GWAS Ctlg	rs5030807

Max Magnitude

7

ClinVar
Risk	rs5030807(A;A) rs5030807(C;C)
Alt	rs5030807(A;A) rs5030807(C;C)
Reference	Rs5030807(T;T)
Significance	Pathogenic
Disease	Renal cell carcinoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Renal cell carcinoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183797T>A; NC_000003.11:g.10183797T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000417911.1, RCV000161087.2, RCV000208869.1,