rs180177359

Orientation

plus

Stabilized

plus

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

Make rs180177359(-;AAT)

Make rs180177359(AAT;AAT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99556508

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177359
dbSNP (classic)	rs180177359
ClinGen	rs180177359
ebi	rs180177359
HLI	rs180177359
Exac	rs180177359
Gnomad	rs180177359
Varsome	rs180177359
LitVar	rs180177359
Map	rs180177359
PheGenI	rs180177359
Biobank	rs180177359
1000 genomes	rs180177359
hgdp	rs180177359
ensembl	rs180177359
geneview	rs180177359
scholar	rs180177359
google	rs180177359
pharmgkb	rs180177359
gwascentral	rs180177359
openSNP	rs180177359
23andMe	rs180177359
SNPshot	rs180177359
SNPdbe	rs180177359
MSV3d	rs180177359
GWAS Ctlg	rs180177359

Merged from

Rs386834092

Max Magnitude

0

ClinVar
Risk	rs180177359(AAT;AAT) rs180177359(ATA;ATA)
Alt	rs180177359(AAT;AAT) rs180177359(ATA;ATA)
Reference	Rs180177359(-;-)
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.