rs5030826

plus

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

Make rs5030826(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142041

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030826
dbSNP (classic)	rs5030826
ClinGen	rs5030826
ebi	rs5030826
HLI	rs5030826
Exac	rs5030826
Gnomad	rs5030826
Varsome	rs5030826
LitVar	rs5030826
Map	rs5030826
PheGenI	rs5030826
Biobank	rs5030826
1000 genomes	rs5030826
hgdp	rs5030826
ensembl	rs5030826
geneview	rs5030826
scholar	rs5030826
google	rs5030826
pharmgkb	rs5030826
gwascentral	rs5030826
openSNP	rs5030826
23andMe	rs5030826
SNPshot	rs5030826
SNPdbe	rs5030826
MSV3d	rs5030826
GWAS Ctlg	rs5030826

Max Magnitude

7

aka c.194C>T (p.Ser65Leu or S65L), or c.194C>A (p.Ser65Ter or S65X), or c.194C>G (p.Ser65Trp or S65W); all three are considered pathogenic in ClinVar for Von Hippel-Lindau syndrome

ClinVar
Risk	rs5030826(A;A) rs5030826(G;G) rs5030826(T;T)
Alt	rs5030826(A;A) rs5030826(G;G) rs5030826(T;T)
Reference	Rs5030826(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183725C>A; NC_000003.11:g.10183725C>G; NC_000003.11:g.10183725C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000208831.1, RCV000036539.3, RCV000199197.1,