rs104893826

Orientation

plus

Stabilized

plus

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

Make rs104893826(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142038

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs104893826
dbSNP (classic)	rs104893826
ClinGen	rs104893826
ebi	rs104893826
HLI	rs104893826
Exac	rs104893826
Gnomad	rs104893826
Varsome	rs104893826
LitVar	rs104893826
Map	rs104893826
PheGenI	rs104893826
Biobank	rs104893826
1000 genomes	rs104893826
hgdp	rs104893826
ensembl	rs104893826
geneview	rs104893826
scholar	rs104893826
google	rs104893826
pharmgkb	rs104893826
gwascentral	rs104893826
openSNP	rs104893826
23andMe	rs104893826
SNPshot	rs104893826
SNPdbe	rs104893826
MSV3d	rs104893826
GWAS Ctlg	rs104893826

Max Magnitude

7

OMIM	608537
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104893826(A;A) rs104893826(C;C)
Alt	rs104893826(A;A) rs104893826(C;C)
Reference	Rs104893826(G;G)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome Erythrocytosis
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome Erythrocytosis, familial, 2
Reversed	0
HGVS	NC_000003.11:g.10183722G>A; NC_000003.11:g.10183722G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000123103.1, RCV000002314.3, RCV000132356.2, RCV000208872.1, RCV000475973.1,