rs1057516324

Orientation

plus

Stabilized

plus

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

Make rs1057516324(-;-)

Make rs1057516324(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99121240

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516324
dbSNP (classic)	rs1057516324
ClinGen	rs1057516324
ebi	rs1057516324
HLI	rs1057516324
Exac	rs1057516324
Gnomad	rs1057516324
Varsome	rs1057516324
LitVar	rs1057516324
Map	rs1057516324
PheGenI	rs1057516324
Biobank	rs1057516324
1000 genomes	rs1057516324
hgdp	rs1057516324
ensembl	rs1057516324
geneview	rs1057516324
scholar	rs1057516324
google	rs1057516324
pharmgkb	rs1057516324
gwascentral	rs1057516324
openSNP	rs1057516324
23andMe	rs1057516324
SNPshot	rs1057516324
SNPdbe	rs1057516324
MSV3d	rs1057516324
GWAS Ctlg	rs1057516324

Max Magnitude

0

ClinVar
Risk	rs1057516324(-;-)
Alt	rs1057516324(-;-)
Reference	Rs1057516324(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100133468delA
CLNSRC
CLNACC	RCV000409173.1,