rs386834074

Orientation

plus

Stabilized

plus

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

Make rs386834074(-;-)

Make rs386834074(-;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99156582

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834074
dbSNP (classic)	rs386834074
ClinGen	rs386834074
ebi	rs386834074
HLI	rs386834074
Exac	rs386834074
Gnomad	rs386834074
Varsome	rs386834074
LitVar	rs386834074
Map	rs386834074
PheGenI	rs386834074
Biobank	rs386834074
1000 genomes	rs386834074
hgdp	rs386834074
ensembl	rs386834074
geneview	rs386834074
scholar	rs386834074
google	rs386834074
pharmgkb	rs386834074
gwascentral	rs386834074
openSNP	rs386834074
23andMe	rs386834074
SNPshot	rs386834074
SNPdbe	rs386834074
MSV3d	rs386834074
GWAS Ctlg	rs386834074

Max Magnitude

0

ClinVar
Risk	rs386834074(-;-)
Alt	rs386834074(-;-)
Reference	Rs386834074(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100168810delC
CLNSRC	ClinVar
CLNACC	RCV000050062.1,

[PMID 17990063] Clinical and molecular characterization of Italian patients affected by Cohen syndrome.