rs121909214

Orientation

plus

Stabilized

plus

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

Make rs121909214(C;C)

Make rs121909214(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

136056736

Gene

TGFBI

is a	snp
is	mentioned by
dbSNP	rs121909214
dbSNP (classic)	rs121909214
ClinGen	rs121909214
ebi	rs121909214
HLI	rs121909214
Exac	rs121909214
Gnomad	rs121909214
Varsome	rs121909214
LitVar	rs121909214
Map	rs121909214
PheGenI	rs121909214
Biobank	rs121909214
1000 genomes	rs121909214
hgdp	rs121909214
ensembl	rs121909214
geneview	rs121909214
scholar	rs121909214
google	rs121909214
pharmgkb	rs121909214
gwascentral	rs121909214
openSNP	rs121909214
23andMe	rs121909214
SNPshot	rs121909214
SNPdbe	rs121909214
MSV3d	rs121909214
GWAS Ctlg	rs121909214

Max Magnitude

0

OMIM	601692
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909214(C;C)
Alt	rs121909214(C;C)
Reference	Rs121909214(T;T)
Significance	Pathogenic
Disease	Lattice corneal dystrophy type 3A
Variation	info
Gene	TGFBI
CLNDBN	Lattice corneal dystrophy type 3A
Reversed	0
HGVS	NC_000005.9:g.135392425T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008324.2,