rs1057516353

Orientation

plus

Stabilized

plus

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

Make rs1057516353(C;T)

Make rs1057516353(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99835267

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516353
dbSNP (classic)	rs1057516353
ClinGen	rs1057516353
ebi	rs1057516353
HLI	rs1057516353
Exac	rs1057516353
Gnomad	rs1057516353
Varsome	rs1057516353
LitVar	rs1057516353
Map	rs1057516353
PheGenI	rs1057516353
Biobank	rs1057516353
1000 genomes	rs1057516353
hgdp	rs1057516353
ensembl	rs1057516353
geneview	rs1057516353
scholar	rs1057516353
google	rs1057516353
pharmgkb	rs1057516353
gwascentral	rs1057516353
openSNP	rs1057516353
23andMe	rs1057516353
SNPshot	rs1057516353
SNPdbe	rs1057516353
MSV3d	rs1057516353
GWAS Ctlg	rs1057516353

Max Magnitude

0

ClinVar
Risk	rs1057516353(T;T)
Alt	rs1057516353(T;T)
Reference	Rs1057516353(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100847495C>T
CLNSRC
CLNACC	RCV000411971.1,