rs386834102

Orientation

plus

Stabilized

plus

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

Make rs386834102(-;-)

Make rs386834102(-;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99717328

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834102
dbSNP (classic)	rs386834102
ClinGen	rs386834102
ebi	rs386834102
HLI	rs386834102
Exac	rs386834102
Gnomad	rs386834102
Varsome	rs386834102
LitVar	rs386834102
Map	rs386834102
PheGenI	rs386834102
Biobank	rs386834102
1000 genomes	rs386834102
hgdp	rs386834102
ensembl	rs386834102
geneview	rs386834102
scholar	rs386834102
google	rs386834102
pharmgkb	rs386834102
gwascentral	rs386834102
openSNP	rs386834102
23andMe	rs386834102
SNPshot	rs386834102
SNPdbe	rs386834102
MSV3d	rs386834102
GWAS Ctlg	rs386834102

Max Magnitude

0

ClinVar
Risk	rs386834102(-;-)
Alt	rs386834102(-;-)
Reference	Rs386834102(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100729556delA
CLNSRC	ClinVar
CLNACC	RCV000050095.1,

[PMID 19006247] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.