rs121909217

Orientation

plus

Stabilized

plus

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

Make rs121909217(C;C)

Make rs121909217(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

136062674

Gene

TGFBI

is a	snp
is	mentioned by
dbSNP	rs121909217
dbSNP (classic)	rs121909217
ClinGen	rs121909217
ebi	rs121909217
HLI	rs121909217
Exac	rs121909217
Gnomad	rs121909217
Varsome	rs121909217
LitVar	rs121909217
Map	rs121909217
PheGenI	rs121909217
Biobank	rs121909217
1000 genomes	rs121909217
hgdp	rs121909217
ensembl	rs121909217
geneview	rs121909217
scholar	rs121909217
google	rs121909217
pharmgkb	rs121909217
gwascentral	rs121909217
openSNP	rs121909217
23andMe	rs121909217
SNPshot	rs121909217
SNPdbe	rs121909217
MSV3d	rs121909217
GWAS Ctlg	rs121909217

GMAF

0.001377

Max Magnitude

0

OMIM	601692
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121909217(C;C)
Alt	rs121909217(C;C)
Reference	Rs121909217(G;G)
Significance	Pathogenic
Disease	Corneal epithelial dystrophy
Variation	info
Gene	TGFBI
CLNDBN	Corneal epithelial dystrophy
Reversed	0
HGVS	NC_000005.9:g.135398363G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008327.3,