rs386834086

Orientation

plus

Stabilized

plus

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

Make rs386834086(C;T)

Make rs386834086(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99511215

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834086
dbSNP (classic)	rs386834086
ClinGen	rs386834086
ebi	rs386834086
HLI	rs386834086
Exac	rs386834086
Gnomad	rs386834086
Varsome	rs386834086
LitVar	rs386834086
Map	rs386834086
PheGenI	rs386834086
Biobank	rs386834086
1000 genomes	rs386834086
hgdp	rs386834086
ensembl	rs386834086
geneview	rs386834086
scholar	rs386834086
google	rs386834086
pharmgkb	rs386834086
gwascentral	rs386834086
openSNP	rs386834086
23andMe	rs386834086
SNPshot	rs386834086
SNPdbe	rs386834086
MSV3d	rs386834086
GWAS Ctlg	rs386834086

Max Magnitude

0

ClinVar
Risk	rs386834086(T;T)
Alt	rs386834086(T;T)
Reference	Rs386834086(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100523443C>T
CLNSRC	ClinVar
CLNACC	RCV000050077.1,

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