rs1057516614

Orientation

plus

Stabilized

plus

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

Make rs1057516614(-;-)

Make rs1057516614(-;CC)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99835676

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516614
dbSNP (classic)	rs1057516614
ClinGen	rs1057516614
ebi	rs1057516614
HLI	rs1057516614
Exac	rs1057516614
Gnomad	rs1057516614
Varsome	rs1057516614
LitVar	rs1057516614
Map	rs1057516614
PheGenI	rs1057516614
Biobank	rs1057516614
1000 genomes	rs1057516614
hgdp	rs1057516614
ensembl	rs1057516614
geneview	rs1057516614
scholar	rs1057516614
google	rs1057516614
pharmgkb	rs1057516614
gwascentral	rs1057516614
openSNP	rs1057516614
23andMe	rs1057516614
SNPshot	rs1057516614
SNPdbe	rs1057516614
MSV3d	rs1057516614
GWAS Ctlg	rs1057516614

Max Magnitude

0

ClinVar
Risk	rs1057516614(-;-)
Alt	rs1057516614(-;-)
Reference	Rs1057516614(CC;CC)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100847904_100847905delCC
CLNSRC
CLNACC	RCV000411812.1,