rs120074149

Orientation

plus

Stabilized

plus

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

Make rs120074149(G;G)

Make rs120074149(G;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99717219

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074149
dbSNP (classic)	rs120074149
ClinGen	rs120074149
ebi	rs120074149
HLI	rs120074149
Exac	rs120074149
Gnomad	rs120074149
Varsome	rs120074149
LitVar	rs120074149
Map	rs120074149
PheGenI	rs120074149
Biobank	rs120074149
1000 genomes	rs120074149
hgdp	rs120074149
ensembl	rs120074149
geneview	rs120074149
scholar	rs120074149
google	rs120074149
pharmgkb	rs120074149
gwascentral	rs120074149
openSNP	rs120074149
23andMe	rs120074149
SNPshot	rs120074149
SNPdbe	rs120074149
MSV3d	rs120074149
GWAS Ctlg	rs120074149

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0002
Related	also

ClinVar
Risk	rs120074149(G;G)
Alt	rs120074149(G;G)
Reference	Rs120074149(T;T)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100729447T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002953.3,