rs180177358

Orientation

plus

Stabilized

plus

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

Make rs180177358(-;-)

Make rs180177358(-;GT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99384318

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177358
dbSNP (classic)	rs180177358
ClinGen	rs180177358
ebi	rs180177358
HLI	rs180177358
Exac	rs180177358
Gnomad	rs180177358
Varsome	rs180177358
LitVar	rs180177358
Map	rs180177358
PheGenI	rs180177358
Biobank	rs180177358
1000 genomes	rs180177358
hgdp	rs180177358
ensembl	rs180177358
geneview	rs180177358
scholar	rs180177358
google	rs180177358
pharmgkb	rs180177358
gwascentral	rs180177358
openSNP	rs180177358
23andMe	rs180177358
SNPshot	rs180177358
SNPdbe	rs180177358
MSV3d	rs180177358
GWAS Ctlg	rs180177358

Max Magnitude

0

ClinVar
Risk	rs180177358(-;-)
Alt	rs180177358(-;-)
Reference	Rs180177358(GT;GT)
Significance	Pathogenic
Disease	Cohen syndrome not provided
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.100396546_100396547delGT
CLNSRC	ClinVar
CLNACC	RCV000050070.1, RCV000058894.1,

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