rs120074154

Orientation

plus

Stabilized

plus

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

Make rs120074154(C;T)

Make rs120074154(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99854202

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074154
dbSNP (classic)	rs120074154
ClinGen	rs120074154
ebi	rs120074154
HLI	rs120074154
Exac	rs120074154
Gnomad	rs120074154
Varsome	rs120074154
LitVar	rs120074154
Map	rs120074154
PheGenI	rs120074154
Biobank	rs120074154
1000 genomes	rs120074154
hgdp	rs120074154
ensembl	rs120074154
geneview	rs120074154
scholar	rs120074154
google	rs120074154
pharmgkb	rs120074154
gwascentral	rs120074154
openSNP	rs120074154
23andMe	rs120074154
SNPshot	rs120074154
SNPdbe	rs120074154
MSV3d	rs120074154
GWAS Ctlg	rs120074154

Max Magnitude

0

OMIM	607817
Desc
Variant	0008
Related	also

ClinVar
Risk	rs120074154(T;T)
Alt	rs120074154(T;T)
Reference	Rs120074154(C;C)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100866430C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002959.3,