rs1057516840

Orientation

plus

Stabilized

plus

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

Make rs1057516840(G;T)

Make rs1057516840(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99721048

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516840
dbSNP (classic)	rs1057516840
ClinGen	rs1057516840
ebi	rs1057516840
HLI	rs1057516840
Exac	rs1057516840
Gnomad	rs1057516840
Varsome	rs1057516840
LitVar	rs1057516840
Map	rs1057516840
PheGenI	rs1057516840
Biobank	rs1057516840
1000 genomes	rs1057516840
hgdp	rs1057516840
ensembl	rs1057516840
geneview	rs1057516840
scholar	rs1057516840
google	rs1057516840
pharmgkb	rs1057516840
gwascentral	rs1057516840
openSNP	rs1057516840
23andMe	rs1057516840
SNPshot	rs1057516840
SNPdbe	rs1057516840
MSV3d	rs1057516840
GWAS Ctlg	rs1057516840

Max Magnitude

0

ClinVar
Risk	rs1057516840(T;T)
Alt	rs1057516840(T;T)
Reference	Rs1057516840(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100733276G>T
CLNSRC
CLNACC	RCV000409821.1,