rs28940300

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28940300(C;T)

Make rs28940300(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149897

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs28940300
dbSNP (classic)	rs28940300
ClinGen	rs28940300
ebi	rs28940300
HLI	rs28940300
Exac	rs28940300
Gnomad	rs28940300
Varsome	rs28940300
LitVar	rs28940300
Map	rs28940300
PheGenI	rs28940300
Biobank	rs28940300
1000 genomes	rs28940300
hgdp	rs28940300
ensembl	rs28940300
geneview	rs28940300
scholar	rs28940300
google	rs28940300
pharmgkb	rs28940300
gwascentral	rs28940300
openSNP	rs28940300
23andMe	rs28940300
SNPshot	rs28940300
SNPdbe	rs28940300
MSV3d	rs28940300
GWAS Ctlg	rs28940300

Max Magnitude

0

OMIM	608537
Desc	ERYTHROCYTOSIS, FAMILIAL, 2
Variant	0023
Related	also

ClinVar
Risk	rs28940300(T;T)
Alt	rs28940300(T;T)
Reference	Rs28940300(C;C)
Significance	Pathogenic
Disease	Erythrocytosis not specified
Variation	info
Gene	VHL
CLNDBN	Erythrocytosis, familial, 2 not specified
Reversed	0
HGVS	NC_000003.11:g.10191581C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002322.3, RCV000236065.2,