rs1057516971

Orientation

plus

Stabilized

plus

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

Make rs1057516971(-;-)

Make rs1057516971(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99121279

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516971
dbSNP (classic)	rs1057516971
ClinGen	rs1057516971
ebi	rs1057516971
HLI	rs1057516971
Exac	rs1057516971
Gnomad	rs1057516971
Varsome	rs1057516971
LitVar	rs1057516971
Map	rs1057516971
PheGenI	rs1057516971
Biobank	rs1057516971
1000 genomes	rs1057516971
hgdp	rs1057516971
ensembl	rs1057516971
geneview	rs1057516971
scholar	rs1057516971
google	rs1057516971
pharmgkb	rs1057516971
gwascentral	rs1057516971
openSNP	rs1057516971
23andMe	rs1057516971
SNPshot	rs1057516971
SNPdbe	rs1057516971
MSV3d	rs1057516971
GWAS Ctlg	rs1057516971

Max Magnitude

0

ClinVar
Risk	rs1057516971(-;-)
Alt	rs1057516971(-;-)
Reference	Rs1057516971(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100133507delC
CLNSRC
CLNACC	RCV000412362.1,