rs1057516651

Orientation

plus

Stabilized

plus

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

Make rs1057516651(-;-)

Make rs1057516651(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99871527

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516651
dbSNP (classic)	rs1057516651
ClinGen	rs1057516651
ebi	rs1057516651
HLI	rs1057516651
Exac	rs1057516651
Gnomad	rs1057516651
Varsome	rs1057516651
LitVar	rs1057516651
Map	rs1057516651
PheGenI	rs1057516651
Biobank	rs1057516651
1000 genomes	rs1057516651
hgdp	rs1057516651
ensembl	rs1057516651
geneview	rs1057516651
scholar	rs1057516651
google	rs1057516651
pharmgkb	rs1057516651
gwascentral	rs1057516651
openSNP	rs1057516651
23andMe	rs1057516651
SNPshot	rs1057516651
SNPdbe	rs1057516651
MSV3d	rs1057516651
GWAS Ctlg	rs1057516651

Max Magnitude

0

ClinVar
Risk	rs1057516651(-;-)
Alt	rs1057516651(-;-)
Reference	Rs1057516651(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100883755delC
CLNSRC
CLNACC	RCV000412009.1,