rs386834072

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ATTGT;ATTGT)	0	common in clinvar
(GTATT;GTATT)	0	common in clinvar
(I;I)	0	common genotype

Make rs386834072(-;-)

Make rs386834072(-;ATTGT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99134694

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834072
dbSNP (classic)	rs386834072
ClinGen	rs386834072
ebi	rs386834072
HLI	rs386834072
Exac	rs386834072
Gnomad	rs386834072
Varsome	rs386834072
LitVar	rs386834072
Map	rs386834072
PheGenI	rs386834072
Biobank	rs386834072
1000 genomes	rs386834072
hgdp	rs386834072
ensembl	rs386834072
geneview	rs386834072
scholar	rs386834072
google	rs386834072
pharmgkb	rs386834072
gwascentral	rs386834072
openSNP	rs386834072
23andMe	rs386834072
SNPshot	rs386834072
SNPdbe	rs386834072
MSV3d	rs386834072
GWAS Ctlg	rs386834072

Max Magnitude

0

ClinVar
Risk	rs386834072(-;-)
Alt	rs386834072(-;-)
Reference	Rs386834072(GTATT;GTATT)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100146922_100146926delATTGT
CLNSRC	ClinVar
CLNACC	RCV000050060.1,

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