rs104893825

Orientation

plus

Stabilized

plus

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

Make rs104893825(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149819

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs104893825
dbSNP (classic)	rs104893825
ClinGen	rs104893825
ebi	rs104893825
HLI	rs104893825
Exac	rs104893825
Gnomad	rs104893825
Varsome	rs104893825
LitVar	rs104893825
Map	rs104893825
PheGenI	rs104893825
Biobank	rs104893825
1000 genomes	rs104893825
hgdp	rs104893825
ensembl	rs104893825
geneview	rs104893825
scholar	rs104893825
google	rs104893825
pharmgkb	rs104893825
gwascentral	rs104893825
openSNP	rs104893825
23andMe	rs104893825
SNPshot	rs104893825
SNPdbe	rs104893825
MSV3d	rs104893825
GWAS Ctlg	rs104893825

Max Magnitude

7

aka c.496G>T (p.Val166Phe or V166F)

23andMe name: i5006373

OMIM	608537
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104893825(T;T)
Alt	rs104893825(T;T)
Reference	Rs104893825(G;G)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10191503G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002310.2, RCV000220823.2,