rs104893824

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 rs104893824(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142181

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs104893824
dbSNP (classic)	rs104893824
ClinGen	rs104893824
ebi	rs104893824
HLI	rs104893824
Exac	rs104893824
Gnomad	rs104893824
Varsome	rs104893824
LitVar	rs104893824
Map	rs104893824
PheGenI	rs104893824
Biobank	rs104893824
1000 genomes	rs104893824
hgdp	rs104893824
ensembl	rs104893824
geneview	rs104893824
scholar	rs104893824
google	rs104893824
pharmgkb	rs104893824
gwascentral	rs104893824
openSNP	rs104893824
23andMe	rs104893824
SNPshot	rs104893824
SNPdbe	rs104893824
MSV3d	rs104893824
GWAS Ctlg	rs104893824

Max Magnitude

7

OMIM	608537
Desc
Variant	0017
Related	also

OMIM	608537
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893824(A;A) rs104893824(C;C)
Alt	rs104893824(A;A) rs104893824(C;C)
Reference	Rs104893824(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.10183865T>A; NC_000003.11:g.10183865T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002316.3, RCV000002308.2,