rs745404712

Orientation

plus

Stabilized

plus

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

Make rs745404712(A;C)

Make rs745404712(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99859302

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs745404712
dbSNP (classic)	rs745404712
ClinGen	rs745404712
ebi	rs745404712
HLI	rs745404712
Exac	rs745404712
Gnomad	rs745404712
Varsome	rs745404712
LitVar	rs745404712
Map	rs745404712
PheGenI	rs745404712
Biobank	rs745404712
1000 genomes	rs745404712
hgdp	rs745404712
ensembl	rs745404712
geneview	rs745404712
scholar	rs745404712
google	rs745404712
pharmgkb	rs745404712
gwascentral	rs745404712
openSNP	rs745404712
23andMe	rs745404712
SNPshot	rs745404712
SNPdbe	rs745404712
MSV3d	rs745404712
GWAS Ctlg	rs745404712

Max Magnitude

0

ClinVar
Risk	rs745404712(C;C) rs745404712(G;G)
Alt	rs745404712(C;C) rs745404712(G;G)
Reference	Rs745404712(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100871530A>C
CLNSRC
CLNACC	RCV000410769.1,