rs5030821

plus

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

Make rs5030821(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149823

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030821
dbSNP (classic)	rs5030821
ClinGen	rs5030821
ebi	rs5030821
HLI	rs5030821
Exac	rs5030821
Gnomad	rs5030821
Varsome	rs5030821
LitVar	rs5030821
Map	rs5030821
PheGenI	rs5030821
Biobank	rs5030821
1000 genomes	rs5030821
hgdp	rs5030821
ensembl	rs5030821
geneview	rs5030821
scholar	rs5030821
google	rs5030821
pharmgkb	rs5030821
gwascentral	rs5030821
openSNP	rs5030821
23andMe	rs5030821
SNPshot	rs5030821
SNPdbe	rs5030821
MSV3d	rs5030821
GWAS Ctlg	rs5030821

Max Magnitude

7

aka c.500G>T (p.Arg167Leu or R167L), as well as c.500G>C (p.Arg167Pro or R167P), as well as c.500G>A (p.Arg167Gln or R167Q), all of which are considered pathogenic

23andMe name for c.500G>A variant: i3003391

OMIM	608537
Desc
Variant	0005
Related	also

ClinVar
Risk	rs5030821(A;A)
Alt	rs5030821(A;A)
Reference	Rs5030821(G;G)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis not provided
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis, familial, 2 not provided
Reversed	0
HGVS	NC_000003.11:g.10191507G>A; NC_000003.11:g.10191507G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002300.4, RCV000213850.2, RCV000225755.2, RCV000325074.2, RCV000492510.1,