rs120074152

Orientation

plus

Stabilized

plus

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

Make rs120074152(C;T)

Make rs120074152(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99384294

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074152
dbSNP (classic)	rs120074152
ClinGen	rs120074152
ebi	rs120074152
HLI	rs120074152
Exac	rs120074152
Gnomad	rs120074152
Varsome	rs120074152
LitVar	rs120074152
Map	rs120074152
PheGenI	rs120074152
Biobank	rs120074152
1000 genomes	rs120074152
hgdp	rs120074152
ensembl	rs120074152
geneview	rs120074152
scholar	rs120074152
google	rs120074152
pharmgkb	rs120074152
gwascentral	rs120074152
openSNP	rs120074152
23andMe	rs120074152
SNPshot	rs120074152
SNPdbe	rs120074152
MSV3d	rs120074152
GWAS Ctlg	rs120074152

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0006
Related	also

ClinVar
Risk	rs120074152(T;T)
Alt	rs120074152(T;T)
Reference	Rs120074152(C;C)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100396522C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002957.3,