rs386834092

Merged into

rs180177359

Orientation

plus

Stabilized

plus

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

Make rs386834092(-;ATA)

Make rs386834092(ATA;ATA)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99556509

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834092
dbSNP (classic)	rs386834092
ClinGen	rs386834092
ebi	rs386834092
HLI	rs386834092
Exac	rs386834092
Gnomad	rs386834092
Varsome	rs386834092
LitVar	rs386834092
Map	rs386834092
PheGenI	rs386834092
Biobank	rs386834092
1000 genomes	rs386834092
hgdp	rs386834092
ensembl	rs386834092
geneview	rs386834092
scholar	rs386834092
google	rs386834092
pharmgkb	rs386834092
gwascentral	rs386834092
openSNP	rs386834092
23andMe	rs386834092
SNPshot	rs386834092
SNPdbe	rs386834092
MSV3d	rs386834092
GWAS Ctlg	rs386834092

Status

Merged into rs180177359

Max Magnitude

0

ClinVar
Risk	rs386834092(AAT;AAT)
Alt	rs386834092(AAT;AAT)
Reference	Rs386834092(;)
Significance	Pathogenic
Disease	Cohen syndrome not provided
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.100568735_100568737dupATA
CLNSRC	ClinVar
CLNACC	RCV000050083.1, RCV000058895.1,

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