rs1057516789

Orientation

plus

Stabilized

plus

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

Make rs1057516789(-;-)

Make rs1057516789(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99821481

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516789
dbSNP (classic)	rs1057516789
ClinGen	rs1057516789
ebi	rs1057516789
HLI	rs1057516789
Exac	rs1057516789
Gnomad	rs1057516789
Varsome	rs1057516789
LitVar	rs1057516789
Map	rs1057516789
PheGenI	rs1057516789
Biobank	rs1057516789
1000 genomes	rs1057516789
hgdp	rs1057516789
ensembl	rs1057516789
geneview	rs1057516789
scholar	rs1057516789
google	rs1057516789
pharmgkb	rs1057516789
gwascentral	rs1057516789
openSNP	rs1057516789
23andMe	rs1057516789
SNPshot	rs1057516789
SNPdbe	rs1057516789
MSV3d	rs1057516789
GWAS Ctlg	rs1057516789

Max Magnitude

0

ClinVar
Risk	rs1057516789(-;-)
Alt	rs1057516789(-;-)
Reference	Rs1057516789(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100833709delA
CLNSRC
CLNACC	RCV000410741.1,