rs747363890

Orientation

plus

Stabilized

plus

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

Make rs747363890(A;A)

Make rs747363890(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99870784

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs747363890
dbSNP (classic)	rs747363890
ClinGen	rs747363890
ebi	rs747363890
HLI	rs747363890
Exac	rs747363890
Gnomad	rs747363890
Varsome	rs747363890
LitVar	rs747363890
Map	rs747363890
PheGenI	rs747363890
Biobank	rs747363890
1000 genomes	rs747363890
hgdp	rs747363890
ensembl	rs747363890
geneview	rs747363890
scholar	rs747363890
google	rs747363890
pharmgkb	rs747363890
gwascentral	rs747363890
openSNP	rs747363890
23andMe	rs747363890
SNPshot	rs747363890
SNPdbe	rs747363890
MSV3d	rs747363890
GWAS Ctlg	rs747363890

Max Magnitude

0

ClinVar
Risk	rs747363890(A;A) rs747363890(C;C)
Alt	rs747363890(A;A) rs747363890(C;C)
Reference	Rs747363890(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100883012G>A
CLNSRC
CLNACC	RCV000411793.1,