rs180177370

Orientation

plus

Stabilized

plus

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

Make rs180177370(C;T)

Make rs180177370(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99817685

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177370
dbSNP (classic)	rs180177370
ClinGen	rs180177370
ebi	rs180177370
HLI	rs180177370
Exac	rs180177370
Gnomad	rs180177370
Varsome	rs180177370
LitVar	rs180177370
Map	rs180177370
PheGenI	rs180177370
Biobank	rs180177370
1000 genomes	rs180177370
hgdp	rs180177370
ensembl	rs180177370
geneview	rs180177370
scholar	rs180177370
google	rs180177370
pharmgkb	rs180177370
gwascentral	rs180177370
openSNP	rs180177370
23andMe	rs180177370
SNPshot	rs180177370
SNPdbe	rs180177370
MSV3d	rs180177370
GWAS Ctlg	rs180177370

Max Magnitude

0

ClinVar
Risk	rs180177370(T;T)
Alt	rs180177370(T;T)
Reference	Rs180177370(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	VPS13B
CLNDBN	not provided
Reversed	0
HGVS	NC_000008.10:g.100829913C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058906.1,

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