rs180177361

Orientation

plus

Stabilized

plus

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

Make rs180177361(C;G)

Make rs180177361(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99556584

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177361
dbSNP (classic)	rs180177361
ClinGen	rs180177361
ebi	rs180177361
HLI	rs180177361
Exac	rs180177361
Gnomad	rs180177361
Varsome	rs180177361
LitVar	rs180177361
Map	rs180177361
PheGenI	rs180177361
Biobank	rs180177361
1000 genomes	rs180177361
hgdp	rs180177361
ensembl	rs180177361
geneview	rs180177361
scholar	rs180177361
google	rs180177361
pharmgkb	rs180177361
gwascentral	rs180177361
openSNP	rs180177361
23andMe	rs180177361
SNPshot	rs180177361
SNPdbe	rs180177361
MSV3d	rs180177361
GWAS Ctlg	rs180177361

Max Magnitude

0

ClinVar
Risk	rs180177361(G;G)
Alt	rs180177361(G;G)
Reference	Rs180177361(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	VPS13B
CLNDBN	not provided
Reversed	0
HGVS	NC_000008.10:g.100568812C>G
CLNSRC	ClinVar
CLNACC	RCV000058897.1,

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