rs1057516437

Orientation

plus

Stabilized

plus

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

Make rs1057516437(G;G)

Make rs1057516437(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99853495

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516437
dbSNP (classic)	rs1057516437
ClinGen	rs1057516437
ebi	rs1057516437
HLI	rs1057516437
Exac	rs1057516437
Gnomad	rs1057516437
Varsome	rs1057516437
LitVar	rs1057516437
Map	rs1057516437
PheGenI	rs1057516437
Biobank	rs1057516437
1000 genomes	rs1057516437
hgdp	rs1057516437
ensembl	rs1057516437
geneview	rs1057516437
scholar	rs1057516437
google	rs1057516437
pharmgkb	rs1057516437
gwascentral	rs1057516437
openSNP	rs1057516437
23andMe	rs1057516437
SNPshot	rs1057516437
SNPdbe	rs1057516437
MSV3d	rs1057516437
GWAS Ctlg	rs1057516437

Max Magnitude

0

ClinVar
Risk	rs1057516437(G;G)
Alt	rs1057516437(G;G)
Reference	Rs1057516437(T;T)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100865723T>G
CLNSRC
CLNACC	RCV000411447.1,