rs120074138

Orientation

minus

Stabilized

minus

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

Make rs120074138(C;T)

Make rs120074138(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

9832290

Gene

SBF2

is a	snp
is	mentioned by
dbSNP	rs120074138
dbSNP (classic)	rs120074138
ClinGen	rs120074138
ebi	rs120074138
HLI	rs120074138
Exac	rs120074138
Gnomad	rs120074138
Varsome	rs120074138
LitVar	rs120074138
Map	rs120074138
PheGenI	rs120074138
Biobank	rs120074138
1000 genomes	rs120074138
hgdp	rs120074138
ensembl	rs120074138
geneview	rs120074138
scholar	rs120074138
google	rs120074138
pharmgkb	rs120074138
gwascentral	rs120074138
openSNP	rs120074138
23andMe	rs120074138
SNPshot	rs120074138
SNPdbe	rs120074138
MSV3d	rs120074138
GWAS Ctlg	rs120074138

Max Magnitude

0

OMIM	607697
Desc
Variant	0003
Related	also

ClinVar
Risk	rs120074138(T;T)
Alt	rs120074138(T;T)
Reference	Rs120074138(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.9853837G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003045.2,