rs1057516912

Orientation

plus

Stabilized

plus

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

Make rs1057516912(-;-)

Make rs1057516912(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99442430

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516912
dbSNP (classic)	rs1057516912
ClinGen	rs1057516912
ebi	rs1057516912
HLI	rs1057516912
Exac	rs1057516912
Gnomad	rs1057516912
Varsome	rs1057516912
LitVar	rs1057516912
Map	rs1057516912
PheGenI	rs1057516912
Biobank	rs1057516912
1000 genomes	rs1057516912
hgdp	rs1057516912
ensembl	rs1057516912
geneview	rs1057516912
scholar	rs1057516912
google	rs1057516912
pharmgkb	rs1057516912
gwascentral	rs1057516912
openSNP	rs1057516912
23andMe	rs1057516912
SNPshot	rs1057516912
SNPdbe	rs1057516912
MSV3d	rs1057516912
GWAS Ctlg	rs1057516912

Max Magnitude

0

ClinVar
Risk	rs1057516912(-;-)
Alt	rs1057516912(-;-)
Reference	Rs1057516912(T;T)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100454658delT
CLNSRC
CLNACC	RCV000409348.1,