rs397516445

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 rs397516445(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149820

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs397516445
dbSNP (classic)	rs397516445
ClinGen	rs397516445
ebi	rs397516445
HLI	rs397516445
Exac	rs397516445
Gnomad	rs397516445
Varsome	rs397516445
LitVar	rs397516445
Map	rs397516445
PheGenI	rs397516445
Biobank	rs397516445
1000 genomes	rs397516445
hgdp	rs397516445
ensembl	rs397516445
geneview	rs397516445
scholar	rs397516445
google	rs397516445
pharmgkb	rs397516445
gwascentral	rs397516445
openSNP	rs397516445
23andMe	rs397516445
SNPshot	rs397516445
SNPdbe	rs397516445
MSV3d	rs397516445
GWAS Ctlg	rs397516445

Max Magnitude

7

ClinVar
Risk	rs397516445(C;C)
Alt	rs397516445(C;C)
Reference	Rs397516445(T;T)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10191504T>C
CLNSRC	ClinVar
CLNACC	RCV000036549.2,