rs1057516276

Orientation

plus

Stabilized

plus

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

Make rs1057516276(-;-)

Make rs1057516276(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99820119

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516276
dbSNP (classic)	rs1057516276
ClinGen	rs1057516276
ebi	rs1057516276
HLI	rs1057516276
Exac	rs1057516276
Gnomad	rs1057516276
Varsome	rs1057516276
LitVar	rs1057516276
Map	rs1057516276
PheGenI	rs1057516276
Biobank	rs1057516276
1000 genomes	rs1057516276
hgdp	rs1057516276
ensembl	rs1057516276
geneview	rs1057516276
scholar	rs1057516276
google	rs1057516276
pharmgkb	rs1057516276
gwascentral	rs1057516276
openSNP	rs1057516276
23andMe	rs1057516276
SNPshot	rs1057516276
SNPdbe	rs1057516276
MSV3d	rs1057516276
GWAS Ctlg	rs1057516276

Max Magnitude

0

ClinVar
Risk	rs1057516276(-;-)
Alt	rs1057516276(-;-)
Reference	Rs1057516276(T;T)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100832347delT
CLNSRC
CLNACC	RCV000412199.1,