rs119103278

Orientation

plus

Stabilized

plus

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

Make rs119103278(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10146578

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs119103278
dbSNP (classic)	rs119103278
ClinGen	rs119103278
ebi	rs119103278
HLI	rs119103278
Exac	rs119103278
Gnomad	rs119103278
Varsome	rs119103278
LitVar	rs119103278
Map	rs119103278
PheGenI	rs119103278
Biobank	rs119103278
1000 genomes	rs119103278
hgdp	rs119103278
ensembl	rs119103278
geneview	rs119103278
scholar	rs119103278
google	rs119103278
pharmgkb	rs119103278
gwascentral	rs119103278
openSNP	rs119103278
23andMe	rs119103278
SNPshot	rs119103278
SNPdbe	rs119103278
MSV3d	rs119103278
GWAS Ctlg	rs119103278

Max Magnitude

7

OMIM	608537
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119103278(C;C)
Alt	rs119103278(C;C)
Reference	Rs119103278(A;A)
Significance	Pathogenic
Disease	Hemangioblastoma
Variation	info
Gene	VHL
CLNDBN	Hemangioblastoma, sporadic cerebellar
Reversed	0
HGVS	NC_000003.11:g.10188262A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002307.2,