rs386834109

Orientation

plus

Stabilized

plus

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

Make rs386834109(-;-)

Make rs386834109(-;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99784396

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834109
dbSNP (classic)	rs386834109
ClinGen	rs386834109
ebi	rs386834109
HLI	rs386834109
Exac	rs386834109
Gnomad	rs386834109
Varsome	rs386834109
LitVar	rs386834109
Map	rs386834109
PheGenI	rs386834109
Biobank	rs386834109
1000 genomes	rs386834109
hgdp	rs386834109
ensembl	rs386834109
geneview	rs386834109
scholar	rs386834109
google	rs386834109
pharmgkb	rs386834109
gwascentral	rs386834109
openSNP	rs386834109
23andMe	rs386834109
SNPshot	rs386834109
SNPdbe	rs386834109
MSV3d	rs386834109
GWAS Ctlg	rs386834109

Max Magnitude

0

ClinVar
Risk	rs386834109(-;-)
Alt	rs386834109(-;-)
Reference	Rs386834109(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100796624delC
CLNSRC	ClinVar
CLNACC	RCV000050103.1,

[PMID 15154116] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.