rs120074151

Orientation

plus

Stabilized

plus

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

Make rs120074151(G;T)

Make rs120074151(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99511275

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074151
dbSNP (classic)	rs120074151
ClinGen	rs120074151
ebi	rs120074151
HLI	rs120074151
Exac	rs120074151
Gnomad	rs120074151
Varsome	rs120074151
LitVar	rs120074151
Map	rs120074151
PheGenI	rs120074151
Biobank	rs120074151
1000 genomes	rs120074151
hgdp	rs120074151
ensembl	rs120074151
geneview	rs120074151
scholar	rs120074151
google	rs120074151
pharmgkb	rs120074151
gwascentral	rs120074151
openSNP	rs120074151
23andMe	rs120074151
SNPshot	rs120074151
SNPdbe	rs120074151
MSV3d	rs120074151
GWAS Ctlg	rs120074151

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0005
Related	also

ClinVar
Risk	rs120074151(T;T)
Alt	rs120074151(T;T)
Reference	Rs120074151(G;G)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100523503G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002956.3,