rs1057516494

Orientation

plus

Stabilized

plus

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

Make rs1057516494(A;A)

Make rs1057516494(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99717186

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516494
dbSNP (classic)	rs1057516494
ClinGen	rs1057516494
ebi	rs1057516494
HLI	rs1057516494
Exac	rs1057516494
Gnomad	rs1057516494
Varsome	rs1057516494
LitVar	rs1057516494
Map	rs1057516494
PheGenI	rs1057516494
Biobank	rs1057516494
1000 genomes	rs1057516494
hgdp	rs1057516494
ensembl	rs1057516494
geneview	rs1057516494
scholar	rs1057516494
google	rs1057516494
pharmgkb	rs1057516494
gwascentral	rs1057516494
openSNP	rs1057516494
23andMe	rs1057516494
SNPshot	rs1057516494
SNPdbe	rs1057516494
MSV3d	rs1057516494
GWAS Ctlg	rs1057516494

Max Magnitude

0

ClinVar
Risk	rs1057516494(A;A)
Alt	rs1057516494(A;A)
Reference	Rs1057516494(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100729414C>A
CLNSRC
CLNACC	RCV000412148.1,