rs786204533

Orientation

plus

Stabilized

plus

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

Make rs786204533(-;T)

Make rs786204533(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

99641849

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs786204533
dbSNP (classic)	rs786204533
ClinGen	rs786204533
ebi	rs786204533
HLI	rs786204533
Exac	rs786204533
Gnomad	rs786204533
Varsome	rs786204533
LitVar	rs786204533
Map	rs786204533
PheGenI	rs786204533
Biobank	rs786204533
1000 genomes	rs786204533
hgdp	rs786204533
ensembl	rs786204533
geneview	rs786204533
scholar	rs786204533
google	rs786204533
pharmgkb	rs786204533
gwascentral	rs786204533
openSNP	rs786204533
23andMe	rs786204533
SNPshot	rs786204533
SNPdbe	rs786204533
MSV3d	rs786204533
GWAS Ctlg	rs786204533

Max Magnitude

0

ClinVar
Risk	rs786204533(T;T)
Alt	rs786204533(T;T)
Reference	Rs786204533(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100654077dupT
CLNSRC
CLNACC	RCV000169235.1,