rs386834096

Orientation

plus

Stabilized

plus

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

Make rs386834096(-;A)

Make rs386834096(A;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99642252

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834096
dbSNP (classic)	rs386834096
ClinGen	rs386834096
ebi	rs386834096
HLI	rs386834096
Exac	rs386834096
Gnomad	rs386834096
Varsome	rs386834096
LitVar	rs386834096
Map	rs386834096
PheGenI	rs386834096
Biobank	rs386834096
1000 genomes	rs386834096
hgdp	rs386834096
ensembl	rs386834096
geneview	rs386834096
scholar	rs386834096
google	rs386834096
pharmgkb	rs386834096
gwascentral	rs386834096
openSNP	rs386834096
23andMe	rs386834096
SNPshot	rs386834096
SNPdbe	rs386834096
MSV3d	rs386834096
GWAS Ctlg	rs386834096

Max Magnitude

0

ClinVar
Risk	rs386834096(A;A)
Alt	rs386834096(A;A)
Reference	Rs386834096(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100654480dupA
CLNSRC	ClinVar
CLNACC	RCV000050089.1,

[PMID 15141358] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.