rs1057516807

Orientation

plus

Stabilized

plus

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

Make rs1057516807(-;-)

Make rs1057516807(-;AGT)

Make rs1057516807(AGT;AGT)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99823830

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516807
dbSNP (classic)	rs1057516807
ClinGen	rs1057516807
ebi	rs1057516807
HLI	rs1057516807
Exac	rs1057516807
Gnomad	rs1057516807
Varsome	rs1057516807
LitVar	rs1057516807
Map	rs1057516807
PheGenI	rs1057516807
Biobank	rs1057516807
1000 genomes	rs1057516807
hgdp	rs1057516807
ensembl	rs1057516807
geneview	rs1057516807
scholar	rs1057516807
google	rs1057516807
pharmgkb	rs1057516807
gwascentral	rs1057516807
openSNP	rs1057516807
23andMe	rs1057516807
23andMe all	rs1057516807
SNPshot	rs1057516807
SNPdbe	rs1057516807
MSV3d	rs1057516807
GWAS Ctlg	rs1057516807

Max Magnitude

0

ClinVar
Risk	rs1057516807(-;-)
Alt	rs1057516807(-;-)
Reference	Rs1057516807(GTA;GTA)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100836058_100836060delAGT
CLNSRC
CLNACC	RCV000411468.1,