rs386834066

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGTG;AGTG)	0	common in clinvar
(GTGA;GTGA)	0	common in clinvar
(I;I)	0	common genotype

Make rs386834066(-;-)

Make rs386834066(-;AGTG)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99871572

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834066
dbSNP (classic)	rs386834066
ClinGen	rs386834066
ebi	rs386834066
HLI	rs386834066
Exac	rs386834066
Gnomad	rs386834066
Varsome	rs386834066
LitVar	rs386834066
Map	rs386834066
PheGenI	rs386834066
Biobank	rs386834066
1000 genomes	rs386834066
hgdp	rs386834066
ensembl	rs386834066
geneview	rs386834066
scholar	rs386834066
google	rs386834066
pharmgkb	rs386834066
gwascentral	rs386834066
openSNP	rs386834066
23andMe	rs386834066
SNPshot	rs386834066
SNPdbe	rs386834066
MSV3d	rs386834066
GWAS Ctlg	rs386834066

Max Magnitude

0

ClinVar
Risk	rs386834066(-;-) Rs386834066(GTGA;GTGA)
Alt	rs386834066(-;-) Rs386834066(GTGA;GTGA)
Reference	Rs386834066(AGTG;AGTG)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100883800_100883803delAGTG
CLNSRC	ClinVar
CLNACC	RCV000050053.2,

[PMID 20461111] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.