rs1057516274

Orientation

plus

Stabilized

plus

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

Make rs1057516274(AC;G)

Make rs1057516274(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99121318

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516274
dbSNP (classic)	rs1057516274
ClinGen	rs1057516274
ebi	rs1057516274
HLI	rs1057516274
Exac	rs1057516274
Gnomad	rs1057516274
Varsome	rs1057516274
LitVar	rs1057516274
Map	rs1057516274
PheGenI	rs1057516274
Biobank	rs1057516274
1000 genomes	rs1057516274
hgdp	rs1057516274
ensembl	rs1057516274
geneview	rs1057516274
scholar	rs1057516274
google	rs1057516274
pharmgkb	rs1057516274
gwascentral	rs1057516274
openSNP	rs1057516274
23andMe	rs1057516274
SNPshot	rs1057516274
SNPdbe	rs1057516274
MSV3d	rs1057516274
GWAS Ctlg	rs1057516274

Max Magnitude

0

ClinVar
Risk	rs1057516274(G;G)
Alt	rs1057516274(G;G)
Reference	Rs1057516274(AC;AC)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100133546_100133547delACinsG
CLNSRC
CLNACC	RCV000412298.1,