rs1057516302

Orientation

plus

Stabilized

plus

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

Make rs1057516302(-;-)

Make rs1057516302(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99720516

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516302
dbSNP (classic)	rs1057516302
ClinGen	rs1057516302
ebi	rs1057516302
HLI	rs1057516302
Exac	rs1057516302
Gnomad	rs1057516302
Varsome	rs1057516302
LitVar	rs1057516302
Map	rs1057516302
PheGenI	rs1057516302
Biobank	rs1057516302
1000 genomes	rs1057516302
hgdp	rs1057516302
ensembl	rs1057516302
geneview	rs1057516302
scholar	rs1057516302
google	rs1057516302
pharmgkb	rs1057516302
gwascentral	rs1057516302
openSNP	rs1057516302
23andMe	rs1057516302
SNPshot	rs1057516302
SNPdbe	rs1057516302
MSV3d	rs1057516302
GWAS Ctlg	rs1057516302

Max Magnitude

0

ClinVar
Risk	rs1057516302(-;-)
Alt	rs1057516302(-;-)
Reference	Rs1057516302(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100732744delC
CLNSRC
CLNACC	RCV000412351.1,