rs1057516532

Orientation

plus

Stabilized

plus

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

Make rs1057516532(-;-)

Make rs1057516532(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99170098

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516532
dbSNP (classic)	rs1057516532
ClinGen	rs1057516532
ebi	rs1057516532
HLI	rs1057516532
Exac	rs1057516532
Gnomad	rs1057516532
Varsome	rs1057516532
LitVar	rs1057516532
Map	rs1057516532
PheGenI	rs1057516532
Biobank	rs1057516532
1000 genomes	rs1057516532
hgdp	rs1057516532
ensembl	rs1057516532
geneview	rs1057516532
scholar	rs1057516532
google	rs1057516532
pharmgkb	rs1057516532
gwascentral	rs1057516532
openSNP	rs1057516532
23andMe	rs1057516532
SNPshot	rs1057516532
SNPdbe	rs1057516532
MSV3d	rs1057516532
GWAS Ctlg	rs1057516532

Max Magnitude

0

ClinVar
Risk	rs1057516532(-;-)
Alt	rs1057516532(-;-)
Reference	Rs1057516532(T;T)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100182326delT
CLNSRC
CLNACC	RCV000409989.1,