rs386834115

Orientation

plus

Stabilized

plus

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

Make rs386834115(A;G)

Make rs386834115(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99819410

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834115
dbSNP (classic)	rs386834115
ClinGen	rs386834115
ebi	rs386834115
HLI	rs386834115
Exac	rs386834115
Gnomad	rs386834115
Varsome	rs386834115
LitVar	rs386834115
Map	rs386834115
PheGenI	rs386834115
Biobank	rs386834115
1000 genomes	rs386834115
hgdp	rs386834115
ensembl	rs386834115
geneview	rs386834115
scholar	rs386834115
google	rs386834115
pharmgkb	rs386834115
gwascentral	rs386834115
openSNP	rs386834115
23andMe	rs386834115
SNPshot	rs386834115
SNPdbe	rs386834115
MSV3d	rs386834115
GWAS Ctlg	rs386834115

Max Magnitude

0

ClinVar
Risk	rs386834115(G;G)
Alt	rs386834115(G;G)
Reference	Rs386834115(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100831638A>G
CLNSRC	ClinVar
CLNACC	RCV000050109.1,

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