rs1057516663

Orientation

plus

Stabilized

plus

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

Make rs1057516663(C;T)

Make rs1057516663(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99717371

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516663
dbSNP (classic)	rs1057516663
ClinGen	rs1057516663
ebi	rs1057516663
HLI	rs1057516663
Exac	rs1057516663
Gnomad	rs1057516663
Varsome	rs1057516663
LitVar	rs1057516663
Map	rs1057516663
PheGenI	rs1057516663
Biobank	rs1057516663
1000 genomes	rs1057516663
hgdp	rs1057516663
ensembl	rs1057516663
geneview	rs1057516663
scholar	rs1057516663
google	rs1057516663
pharmgkb	rs1057516663
gwascentral	rs1057516663
openSNP	rs1057516663
23andMe	rs1057516663
SNPshot	rs1057516663
SNPdbe	rs1057516663
MSV3d	rs1057516663
GWAS Ctlg	rs1057516663

Max Magnitude

0

ClinVar
Risk	rs1057516663(T;T)
Alt	rs1057516663(T;T)
Reference	Rs1057516663(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100729599C>T
CLNSRC
CLNACC	RCV000409856.1,