rs386834087

Orientation

plus

Stabilized

plus

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

Make rs386834087(-;-)

Make rs386834087(-;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99511278

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834087
dbSNP (classic)	rs386834087
ClinGen	rs386834087
ebi	rs386834087
HLI	rs386834087
Exac	rs386834087
Gnomad	rs386834087
Varsome	rs386834087
LitVar	rs386834087
Map	rs386834087
PheGenI	rs386834087
Biobank	rs386834087
1000 genomes	rs386834087
hgdp	rs386834087
ensembl	rs386834087
geneview	rs386834087
scholar	rs386834087
google	rs386834087
pharmgkb	rs386834087
gwascentral	rs386834087
openSNP	rs386834087
23andMe	rs386834087
SNPshot	rs386834087
SNPdbe	rs386834087
MSV3d	rs386834087
GWAS Ctlg	rs386834087

Max Magnitude

0

ClinVar
Risk	rs386834087(-;-)
Alt	rs386834087(-;-)
Reference	Rs386834087(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100523506delA
CLNSRC	ClinVar
CLNACC	RCV000050078.1,

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