rs1057516923

Orientation

plus

Stabilized

plus

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

Make rs1057516923(A;A)

Make rs1057516923(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99135734

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516923
dbSNP (classic)	rs1057516923
ClinGen	rs1057516923
ebi	rs1057516923
HLI	rs1057516923
Exac	rs1057516923
Gnomad	rs1057516923
Varsome	rs1057516923
LitVar	rs1057516923
Map	rs1057516923
PheGenI	rs1057516923
Biobank	rs1057516923
1000 genomes	rs1057516923
hgdp	rs1057516923
ensembl	rs1057516923
geneview	rs1057516923
scholar	rs1057516923
google	rs1057516923
pharmgkb	rs1057516923
gwascentral	rs1057516923
openSNP	rs1057516923
23andMe	rs1057516923
SNPshot	rs1057516923
SNPdbe	rs1057516923
MSV3d	rs1057516923
GWAS Ctlg	rs1057516923

Max Magnitude

0

ClinVar
Risk	rs1057516923(A;A)
Alt	rs1057516923(A;A)
Reference	Rs1057516923(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100147962G>A
CLNSRC
CLNACC	RCV000409808.1,