rs386834098

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AT;AT)	0	common in clinvar
(I;I)	0	common genotype
(TA;TA)	0	common in clinvar

Make rs386834098(-;-)

Make rs386834098(-;AT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99642324

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834098
dbSNP (classic)	rs386834098
ClinGen	rs386834098
ebi	rs386834098
HLI	rs386834098
Exac	rs386834098
Gnomad	rs386834098
Varsome	rs386834098
LitVar	rs386834098
Map	rs386834098
PheGenI	rs386834098
Biobank	rs386834098
1000 genomes	rs386834098
hgdp	rs386834098
ensembl	rs386834098
geneview	rs386834098
scholar	rs386834098
google	rs386834098
pharmgkb	rs386834098
gwascentral	rs386834098
openSNP	rs386834098
23andMe	rs386834098
SNPshot	rs386834098
SNPdbe	rs386834098
MSV3d	rs386834098
GWAS Ctlg	rs386834098

Max Magnitude

0

ClinVar
Risk	rs386834098(-;-) Rs386834098(TA;TA)
Alt	rs386834098(-;-) Rs386834098(TA;TA)
Reference	Rs386834098(AT;AT)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100654552_100654553delAT
CLNSRC	ClinVar
CLNACC	RCV000050091.2,

[PMID 15691367] COH1 analysis and linkage study in two Japanese families with Cohen syndrome.