rs869025647

Orientation

plus

Stabilized

plus

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

Make rs869025647(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

10142036

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs869025647
dbSNP (classic)	rs869025647
ClinGen	rs869025647
ebi	rs869025647
HLI	rs869025647
Exac	rs869025647
Gnomad	rs869025647
Varsome	rs869025647
LitVar	rs869025647
Map	rs869025647
PheGenI	rs869025647
Biobank	rs869025647
1000 genomes	rs869025647
hgdp	rs869025647
ensembl	rs869025647
geneview	rs869025647
scholar	rs869025647
google	rs869025647
pharmgkb	rs869025647
gwascentral	rs869025647
openSNP	rs869025647
23andMe	rs869025647
SNPshot	rs869025647
SNPdbe	rs869025647
MSV3d	rs869025647
GWAS Ctlg	rs869025647

Max Magnitude

7

aka c.189_192delGCGC (p.Ser65Terfs)

ClinVar
Risk	rs869025647(-;-)
Alt	rs869025647(-;-)
Reference	Rs869025647(GCGC;GCGC)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183720_10183723delGCGC
CLNSRC
CLNACC	RCV000208833.1,