rs1057516653

Orientation

plus

Stabilized

plus

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

Make rs1057516653(-;C)

Make rs1057516653(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99501718

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516653
dbSNP (classic)	rs1057516653
ClinGen	rs1057516653
ebi	rs1057516653
HLI	rs1057516653
Exac	rs1057516653
Gnomad	rs1057516653
Varsome	rs1057516653
LitVar	rs1057516653
Map	rs1057516653
PheGenI	rs1057516653
Biobank	rs1057516653
1000 genomes	rs1057516653
hgdp	rs1057516653
ensembl	rs1057516653
geneview	rs1057516653
scholar	rs1057516653
google	rs1057516653
pharmgkb	rs1057516653
gwascentral	rs1057516653
openSNP	rs1057516653
23andMe	rs1057516653
SNPshot	rs1057516653
SNPdbe	rs1057516653
MSV3d	rs1057516653
GWAS Ctlg	rs1057516653

Max Magnitude

0

ClinVar
Risk	rs1057516653(C;C)
Alt	rs1057516653(C;C)
Reference	Rs1057516653(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100513946dupC
CLNSRC
CLNACC	RCV000410674.1,