rs1057516245

Orientation

plus

Stabilized

plus

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

Make rs1057516245(-;-)

Make rs1057516245(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99868336

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516245
dbSNP (classic)	rs1057516245
ClinGen	rs1057516245
ebi	rs1057516245
HLI	rs1057516245
Exac	rs1057516245
Gnomad	rs1057516245
Varsome	rs1057516245
LitVar	rs1057516245
Map	rs1057516245
PheGenI	rs1057516245
Biobank	rs1057516245
1000 genomes	rs1057516245
hgdp	rs1057516245
ensembl	rs1057516245
geneview	rs1057516245
scholar	rs1057516245
google	rs1057516245
pharmgkb	rs1057516245
gwascentral	rs1057516245
openSNP	rs1057516245
23andMe	rs1057516245
SNPshot	rs1057516245
SNPdbe	rs1057516245
MSV3d	rs1057516245
GWAS Ctlg	rs1057516245

Max Magnitude

0

ClinVar
Risk	rs1057516245(-;-)
Alt	rs1057516245(-;-)
Reference	Rs1057516245(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100880564delA
CLNSRC
CLNACC	RCV000411609.1,