rs120074137

Orientation

minus

Stabilized

minus

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

Make rs120074137(C;T)

Make rs120074137(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

9847015

Gene	LOC101928008, SBF2

is a	snp
is	mentioned by
dbSNP	rs120074137
dbSNP (classic)	rs120074137
ClinGen	rs120074137
ebi	rs120074137
HLI	rs120074137
Exac	rs120074137
Gnomad	rs120074137
Varsome	rs120074137
LitVar	rs120074137
Map	rs120074137
PheGenI	rs120074137
Biobank	rs120074137
1000 genomes	rs120074137
hgdp	rs120074137
ensembl	rs120074137
geneview	rs120074137
scholar	rs120074137
google	rs120074137
pharmgkb	rs120074137
gwascentral	rs120074137
openSNP	rs120074137
23andMe	rs120074137
SNPshot	rs120074137
SNPdbe	rs120074137
MSV3d	rs120074137
GWAS Ctlg	rs120074137

Max Magnitude

0

OMIM	607697
Desc
Variant	0002
Related	also

ClinVar
Risk	rs120074137(T;T)
Alt	rs120074137(T;T)
Reference	Rs120074137(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Variation	info
Gene	LOC101928008 SBF2
CLNDBN	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Reversed	1
HGVS	NC_000011.9:g.9868562G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003044.2,