rs1057516489

Orientation

plus

Stabilized

plus

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

Make rs1057516489(C;T)

Make rs1057516489(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99699797

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516489
dbSNP (classic)	rs1057516489
ClinGen	rs1057516489
ebi	rs1057516489
HLI	rs1057516489
Exac	rs1057516489
Gnomad	rs1057516489
Varsome	rs1057516489
LitVar	rs1057516489
Map	rs1057516489
PheGenI	rs1057516489
Biobank	rs1057516489
1000 genomes	rs1057516489
hgdp	rs1057516489
ensembl	rs1057516489
geneview	rs1057516489
scholar	rs1057516489
google	rs1057516489
pharmgkb	rs1057516489
gwascentral	rs1057516489
openSNP	rs1057516489
23andMe	rs1057516489
SNPshot	rs1057516489
SNPdbe	rs1057516489
MSV3d	rs1057516489
GWAS Ctlg	rs1057516489

Max Magnitude

0

ClinVar
Risk	rs1057516489(T;T)
Alt	rs1057516489(T;T)
Reference	Rs1057516489(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100712025C>T
CLNSRC
CLNACC	RCV000410561.1,