rs1057516726

Orientation

plus

Stabilized

plus

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

Make rs1057516726(-;-)

Make rs1057516726(-;ACTT)

Make rs1057516726(ACTT;ACTT)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99115838

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516726
dbSNP (classic)	rs1057516726
ClinGen	rs1057516726
ebi	rs1057516726
HLI	rs1057516726
Exac	rs1057516726
Gnomad	rs1057516726
Varsome	rs1057516726
LitVar	rs1057516726
Map	rs1057516726
PheGenI	rs1057516726
Biobank	rs1057516726
1000 genomes	rs1057516726
hgdp	rs1057516726
ensembl	rs1057516726
geneview	rs1057516726
scholar	rs1057516726
google	rs1057516726
pharmgkb	rs1057516726
gwascentral	rs1057516726
openSNP	rs1057516726
23andMe	rs1057516726
SNPshot	rs1057516726
SNPdbe	rs1057516726
MSV3d	rs1057516726
GWAS Ctlg	rs1057516726

Max Magnitude

0

ClinVar
Risk	rs1057516726(-;-)
Alt	rs1057516726(-;-)
Reference	Rs1057516726(CTTA;CTTA)
Significance	Probable-Pathogenic
Disease	Cohen syndrome not provided
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.100128066_100128069delACTT
CLNSRC
CLNACC	RCV000412175.1, RCV000480446.1,