rs180177365

Orientation

plus

Stabilized

plus

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

Make rs180177365(C;T)

Make rs180177365(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99642435

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177365
dbSNP (classic)	rs180177365
ClinGen	rs180177365
ebi	rs180177365
HLI	rs180177365
Exac	rs180177365
Gnomad	rs180177365
Varsome	rs180177365
LitVar	rs180177365
Map	rs180177365
PheGenI	rs180177365
Biobank	rs180177365
1000 genomes	rs180177365
hgdp	rs180177365
ensembl	rs180177365
geneview	rs180177365
scholar	rs180177365
google	rs180177365
pharmgkb	rs180177365
gwascentral	rs180177365
openSNP	rs180177365
23andMe	rs180177365
SNPshot	rs180177365
SNPdbe	rs180177365
MSV3d	rs180177365
GWAS Ctlg	rs180177365

Max Magnitude

0

ClinVar
Risk	rs180177365(T;T)
Alt	rs180177365(T;T)
Reference	Rs180177365(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	VPS13B
CLNDBN	not provided
Reversed	0
HGVS	NC_000008.10:g.100654663C>T
CLNSRC	ClinVar
CLNACC	RCV000058901.1,

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