rs5030827

Orientation

plus

Stabilized

plus

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

Make rs5030827(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142097

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030827
dbSNP (classic)	rs5030827
ClinGen	rs5030827
ebi	rs5030827
HLI	rs5030827
Exac	rs5030827
Gnomad	rs5030827
Varsome	rs5030827
LitVar	rs5030827
Map	rs5030827
PheGenI	rs5030827
Biobank	rs5030827
1000 genomes	rs5030827
hgdp	rs5030827
ensembl	rs5030827
geneview	rs5030827
scholar	rs5030827
google	rs5030827
pharmgkb	rs5030827
gwascentral	rs5030827
openSNP	rs5030827
23andMe	rs5030827
SNPshot	rs5030827
SNPdbe	rs5030827
MSV3d	rs5030827
GWAS Ctlg	rs5030827

Max Magnitude

7

OMIM	608537
Desc
Variant	0025
Related	also

ClinVar
Risk	rs5030827(C;C) rs5030827(T;T)
Alt	rs5030827(C;C) rs5030827(T;T)
Reference	Rs5030827(G;G)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183781G>A; NC_000003.11:g.10183781G>C; NC_000003.11:g.10183781G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000492467.1, RCV000216720.1, RCV000002324.6,