rs1057516558

Orientation

plus

Stabilized

plus

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

Make rs1057516558(C;T)

Make rs1057516558(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99820081

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516558
dbSNP (classic)	rs1057516558
ClinGen	rs1057516558
ebi	rs1057516558
HLI	rs1057516558
Exac	rs1057516558
Gnomad	rs1057516558
Varsome	rs1057516558
LitVar	rs1057516558
Map	rs1057516558
PheGenI	rs1057516558
Biobank	rs1057516558
1000 genomes	rs1057516558
hgdp	rs1057516558
ensembl	rs1057516558
geneview	rs1057516558
scholar	rs1057516558
google	rs1057516558
pharmgkb	rs1057516558
gwascentral	rs1057516558
openSNP	rs1057516558
23andMe	rs1057516558
SNPshot	rs1057516558
SNPdbe	rs1057516558
MSV3d	rs1057516558
GWAS Ctlg	rs1057516558

Max Magnitude

0

ClinVar
Risk	rs1057516558(T;T)
Alt	rs1057516558(T;T)
Reference	Rs1057516558(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100832309C>T
CLNSRC
CLNACC	RCV000409592.1,