rs386834091

Orientation

plus

Stabilized

plus

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

Make rs386834091(C;C)

Make rs386834091(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99521012

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834091
dbSNP (classic)	rs386834091
ClinGen	rs386834091
ebi	rs386834091
HLI	rs386834091
Exac	rs386834091
Gnomad	rs386834091
Varsome	rs386834091
LitVar	rs386834091
Map	rs386834091
PheGenI	rs386834091
Biobank	rs386834091
1000 genomes	rs386834091
hgdp	rs386834091
ensembl	rs386834091
geneview	rs386834091
scholar	rs386834091
google	rs386834091
pharmgkb	rs386834091
gwascentral	rs386834091
openSNP	rs386834091
23andMe	rs386834091
SNPshot	rs386834091
SNPdbe	rs386834091
MSV3d	rs386834091
GWAS Ctlg	rs386834091

Max Magnitude

0

ClinVar
Risk	rs386834091(C;C)
Alt	rs386834091(C;C)
Reference	Rs386834091(T;T)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100533240T>C
CLNSRC	ClinVar
CLNACC	RCV000050082.1,

[PMID 19006247] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.