rs120074153

Orientation

plus

Stabilized

plus

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

Make rs120074153(A;A)

Make rs120074153(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99784394

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074153
dbSNP (classic)	rs120074153
ClinGen	rs120074153
ebi	rs120074153
HLI	rs120074153
Exac	rs120074153
Gnomad	rs120074153
Varsome	rs120074153
LitVar	rs120074153
Map	rs120074153
PheGenI	rs120074153
Biobank	rs120074153
1000 genomes	rs120074153
hgdp	rs120074153
ensembl	rs120074153
geneview	rs120074153
scholar	rs120074153
google	rs120074153
pharmgkb	rs120074153
gwascentral	rs120074153
openSNP	rs120074153
23andMe	rs120074153
SNPshot	rs120074153
SNPdbe	rs120074153
MSV3d	rs120074153
GWAS Ctlg	rs120074153

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0007
Related	also

ClinVar
Risk	rs120074153(A;A)
Alt	rs120074153(A;A)
Reference	Rs120074153(G;G)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100796622G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002958.3,