rs1057516484

Orientation

plus

Stabilized

plus

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

Make rs1057516484(A;A)

Make rs1057516484(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99818485

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516484
dbSNP (classic)	rs1057516484
ClinGen	rs1057516484
ebi	rs1057516484
HLI	rs1057516484
Exac	rs1057516484
Gnomad	rs1057516484
Varsome	rs1057516484
LitVar	rs1057516484
Map	rs1057516484
PheGenI	rs1057516484
Biobank	rs1057516484
1000 genomes	rs1057516484
hgdp	rs1057516484
ensembl	rs1057516484
geneview	rs1057516484
scholar	rs1057516484
google	rs1057516484
pharmgkb	rs1057516484
gwascentral	rs1057516484
openSNP	rs1057516484
23andMe	rs1057516484
SNPshot	rs1057516484
SNPdbe	rs1057516484
MSV3d	rs1057516484
GWAS Ctlg	rs1057516484

Max Magnitude

0

ClinVar
Risk	rs1057516484(A;A)
Alt	rs1057516484(A;A)
Reference	Rs1057516484(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100830713G>A
CLNSRC
CLNACC	RCV000410476.1,