rs1057516926

Orientation

plus

Stabilized

plus

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

Make rs1057516926(-;-)

Make rs1057516926(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99431558

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516926
dbSNP (classic)	rs1057516926
ClinGen	rs1057516926
ebi	rs1057516926
HLI	rs1057516926
Exac	rs1057516926
Gnomad	rs1057516926
Varsome	rs1057516926
LitVar	rs1057516926
Map	rs1057516926
PheGenI	rs1057516926
Biobank	rs1057516926
1000 genomes	rs1057516926
hgdp	rs1057516926
ensembl	rs1057516926
geneview	rs1057516926
scholar	rs1057516926
google	rs1057516926
pharmgkb	rs1057516926
gwascentral	rs1057516926
openSNP	rs1057516926
23andMe	rs1057516926
SNPshot	rs1057516926
SNPdbe	rs1057516926
MSV3d	rs1057516926
GWAS Ctlg	rs1057516926

Max Magnitude

0

ClinVar
Risk	rs1057516926(-;-)
Alt	rs1057516926(-;-)
Reference	Rs1057516926(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100443786delC
CLNSRC
CLNACC	RCV000410176.1,