rs120074139

Orientation

minus

Stabilized

minus

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

Make rs120074139(C;T)

Make rs120074139(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

9968482

Gene

SBF2

is a	snp
is	mentioned by
dbSNP	rs120074139
dbSNP (classic)	rs120074139
ClinGen	rs120074139
ebi	rs120074139
HLI	rs120074139
Exac	rs120074139
Gnomad	rs120074139
Varsome	rs120074139
LitVar	rs120074139
Map	rs120074139
PheGenI	rs120074139
Biobank	rs120074139
1000 genomes	rs120074139
hgdp	rs120074139
ensembl	rs120074139
geneview	rs120074139
scholar	rs120074139
google	rs120074139
pharmgkb	rs120074139
gwascentral	rs120074139
openSNP	rs120074139
23andMe	rs120074139
SNPshot	rs120074139
SNPdbe	rs120074139
MSV3d	rs120074139
GWAS Ctlg	rs120074139

Max Magnitude

0

OMIM	607697
Desc
Variant	0004
Related	also

ClinVar
Risk	rs120074139(T;T)
Alt	rs120074139(T;T)
Reference	Rs120074139(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Variation	info
Gene	SBF2
CLNDBN	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Reversed	1
HGVS	NC_000011.9:g.9990029G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003046.2,