rs1057516538

Orientation

plus

Stabilized

plus

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

Make rs1057516538(-;-)

Make rs1057516538(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99821308

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516538
dbSNP (classic)	rs1057516538
ClinGen	rs1057516538
ebi	rs1057516538
HLI	rs1057516538
Exac	rs1057516538
Gnomad	rs1057516538
Varsome	rs1057516538
LitVar	rs1057516538
Map	rs1057516538
PheGenI	rs1057516538
Biobank	rs1057516538
1000 genomes	rs1057516538
hgdp	rs1057516538
ensembl	rs1057516538
geneview	rs1057516538
scholar	rs1057516538
google	rs1057516538
pharmgkb	rs1057516538
gwascentral	rs1057516538
openSNP	rs1057516538
23andMe	rs1057516538
SNPshot	rs1057516538
SNPdbe	rs1057516538
MSV3d	rs1057516538
GWAS Ctlg	rs1057516538

Max Magnitude

0

ClinVar
Risk	rs1057516538(-;-)
Alt	rs1057516538(-;-)
Reference	Rs1057516538(T;T)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100833536delT
CLNSRC
CLNACC	RCV000411201.1,