rs28940297

Orientation

plus

Stabilized

plus

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

Make rs28940297(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149811

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs28940297
dbSNP (classic)	rs28940297
ClinGen	rs28940297
ebi	rs28940297
HLI	rs28940297
Exac	rs28940297
Gnomad	rs28940297
Varsome	rs28940297
LitVar	rs28940297
Map	rs28940297
PheGenI	rs28940297
Biobank	rs28940297
1000 genomes	rs28940297
hgdp	rs28940297
ensembl	rs28940297
geneview	rs28940297
scholar	rs28940297
google	rs28940297
pharmgkb	rs28940297
gwascentral	rs28940297
openSNP	rs28940297
23andMe	rs28940297
SNPshot	rs28940297
SNPdbe	rs28940297
MSV3d	rs28940297
GWAS Ctlg	rs28940297

Max Magnitude

7

OMIM	608537
Desc	RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
Variant	0018
Related	also

ClinVar
Risk	rs28940297(C;C) rs28940297(G;G)
Alt	rs28940297(C;C) rs28940297(G;G)
Reference	Rs28940297(T;T)
Significance	Pathogenic
Disease	Renal cell carcinoma with paraneoplastic erythrocytosis Erythrocytosis Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Renal cell carcinoma with paraneoplastic erythrocytosis Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10191495T>C; NC_000003.11:g.10191495T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002319.3, RCV000474133.1,