rs1057516621

Orientation

plus

Stabilized

plus

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

Make rs1057516621(-;-)

Make rs1057516621(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99835571

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516621
dbSNP (classic)	rs1057516621
ClinGen	rs1057516621
ebi	rs1057516621
HLI	rs1057516621
Exac	rs1057516621
Gnomad	rs1057516621
Varsome	rs1057516621
LitVar	rs1057516621
Map	rs1057516621
PheGenI	rs1057516621
Biobank	rs1057516621
1000 genomes	rs1057516621
hgdp	rs1057516621
ensembl	rs1057516621
geneview	rs1057516621
scholar	rs1057516621
google	rs1057516621
pharmgkb	rs1057516621
gwascentral	rs1057516621
openSNP	rs1057516621
23andMe	rs1057516621
SNPshot	rs1057516621
SNPdbe	rs1057516621
MSV3d	rs1057516621
GWAS Ctlg	rs1057516621

Max Magnitude

0

ClinVar
Risk	rs1057516621(-;-)
Alt	rs1057516621(-;-)
Reference	Rs1057516621(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100847799delA
CLNSRC
CLNACC	RCV000412084.1,