rs386834057

Orientation

plus

Stabilized

plus

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

Make rs386834057(A;A)

Make rs386834057(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99859307

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834057
dbSNP (classic)	rs386834057
ClinGen	rs386834057
ebi	rs386834057
HLI	rs386834057
Exac	rs386834057
Gnomad	rs386834057
Varsome	rs386834057
LitVar	rs386834057
Map	rs386834057
PheGenI	rs386834057
Biobank	rs386834057
1000 genomes	rs386834057
hgdp	rs386834057
ensembl	rs386834057
geneview	rs386834057
scholar	rs386834057
google	rs386834057
pharmgkb	rs386834057
gwascentral	rs386834057
openSNP	rs386834057
23andMe	rs386834057
SNPshot	rs386834057
SNPdbe	rs386834057
MSV3d	rs386834057
GWAS Ctlg	rs386834057

Max Magnitude

0

ClinVar
Risk	rs386834057(A;A)
Alt	rs386834057(A;A)
Reference	Rs386834057(G;G)
Significance	Pathogenic
Disease	Cohen syndrome not provided
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.100871535G>A
CLNSRC	ClinVar
CLNACC	RCV000050044.1, RCV000433192.1,

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