rs120074150

Orientation

plus

Stabilized

plus

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

Make rs120074150(C;T)

Make rs120074150(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99720973

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074150
dbSNP (classic)	rs120074150
ClinGen	rs120074150
ebi	rs120074150
HLI	rs120074150
Exac	rs120074150
Gnomad	rs120074150
Varsome	rs120074150
LitVar	rs120074150
Map	rs120074150
PheGenI	rs120074150
Biobank	rs120074150
1000 genomes	rs120074150
hgdp	rs120074150
ensembl	rs120074150
geneview	rs120074150
scholar	rs120074150
google	rs120074150
pharmgkb	rs120074150
gwascentral	rs120074150
openSNP	rs120074150
23andMe	rs120074150
SNPshot	rs120074150
SNPdbe	rs120074150
MSV3d	rs120074150
GWAS Ctlg	rs120074150

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0003
Related	also

ClinVar
Risk	rs120074150(T;T)
Alt	rs120074150(T;T)
Reference	Rs120074150(C;C)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100733201C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002954.3,