rs180177371

Orientation

plus

Stabilized

plus

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

Make rs180177371(-;-)

Make rs180177371(-;AG)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99853770

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177371
dbSNP (classic)	rs180177371
ClinGen	rs180177371
ebi	rs180177371
HLI	rs180177371
Exac	rs180177371
Gnomad	rs180177371
Varsome	rs180177371
LitVar	rs180177371
Map	rs180177371
PheGenI	rs180177371
Biobank	rs180177371
1000 genomes	rs180177371
hgdp	rs180177371
ensembl	rs180177371
geneview	rs180177371
scholar	rs180177371
google	rs180177371
pharmgkb	rs180177371
gwascentral	rs180177371
openSNP	rs180177371
23andMe	rs180177371
SNPshot	rs180177371
SNPdbe	rs180177371
MSV3d	rs180177371
GWAS Ctlg	rs180177371

Max Magnitude

0

ClinVar
Risk	rs180177371(-;-)
Alt	rs180177371(-;-)
Reference	Rs180177371(AG;AG)
Significance	Pathogenic
Disease	not provided Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	not provided Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100865998_100865999delAG
CLNSRC	ClinVar
CLNACC	RCV000058886.1, RCV000410642.1,

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