rs1057516694

Orientation

plus

Stabilized

plus

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

Make rs1057516694(G;T)

Make rs1057516694(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99661353

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516694
dbSNP (classic)	rs1057516694
ClinGen	rs1057516694
ebi	rs1057516694
HLI	rs1057516694
Exac	rs1057516694
Gnomad	rs1057516694
Varsome	rs1057516694
LitVar	rs1057516694
Map	rs1057516694
PheGenI	rs1057516694
Biobank	rs1057516694
1000 genomes	rs1057516694
hgdp	rs1057516694
ensembl	rs1057516694
geneview	rs1057516694
scholar	rs1057516694
google	rs1057516694
pharmgkb	rs1057516694
gwascentral	rs1057516694
openSNP	rs1057516694
23andMe	rs1057516694
SNPshot	rs1057516694
SNPdbe	rs1057516694
MSV3d	rs1057516694
GWAS Ctlg	rs1057516694

Max Magnitude

0

ClinVar
Risk	rs1057516694(T;T)
Alt	rs1057516694(T;T)
Reference	Rs1057516694(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100673581G>T
CLNSRC
CLNACC	RCV000411803.1,