rs1057516568

Orientation

plus

Stabilized

plus

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

Make rs1057516568(-;-)

Make rs1057516568(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99835626

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516568
dbSNP (classic)	rs1057516568
ClinGen	rs1057516568
ebi	rs1057516568
HLI	rs1057516568
Exac	rs1057516568
Gnomad	rs1057516568
Varsome	rs1057516568
LitVar	rs1057516568
Map	rs1057516568
PheGenI	rs1057516568
Biobank	rs1057516568
1000 genomes	rs1057516568
hgdp	rs1057516568
ensembl	rs1057516568
geneview	rs1057516568
scholar	rs1057516568
google	rs1057516568
pharmgkb	rs1057516568
gwascentral	rs1057516568
openSNP	rs1057516568
23andMe	rs1057516568
SNPshot	rs1057516568
SNPdbe	rs1057516568
MSV3d	rs1057516568
GWAS Ctlg	rs1057516568

Max Magnitude

0

ClinVar
Risk	rs1057516568(-;-)
Alt	rs1057516568(-;-)
Reference	Rs1057516568(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100847854delC
CLNSRC
CLNACC	RCV000409355.1,