rs386834067

Orientation

plus

Stabilized

plus

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

Make rs386834067(AA;AA)

Make rs386834067(AA;CAGTG)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99871657

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834067
dbSNP (classic)	rs386834067
ClinGen	rs386834067
ebi	rs386834067
HLI	rs386834067
Exac	rs386834067
Gnomad	rs386834067
Varsome	rs386834067
LitVar	rs386834067
Map	rs386834067
PheGenI	rs386834067
Biobank	rs386834067
1000 genomes	rs386834067
hgdp	rs386834067
ensembl	rs386834067
geneview	rs386834067
scholar	rs386834067
google	rs386834067
pharmgkb	rs386834067
gwascentral	rs386834067
openSNP	rs386834067
23andMe	rs386834067
SNPshot	rs386834067
SNPdbe	rs386834067
MSV3d	rs386834067
GWAS Ctlg	rs386834067

Max Magnitude

0

ClinVar
Risk	rs386834067(AA;AA) rs386834067(AGAA;AGAA)
Alt	rs386834067(AA;AA) rs386834067(AGAA;AGAA)
Reference	Rs386834067(CAGTG;CAGTG)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100883885_100883889delCAGTGinsAA; NC_000008.10:g.100883885_100883889delCAGTGinsAGAA
CLNSRC	ClinVar
CLNACC	RCV000050054.1, RCV000169612.1,

[PMID 16648375] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.