rs121909211

Orientation

plus

Stabilized

plus

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

Make rs121909211(A;A)

Make rs121909211(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

136046407

Gene

TGFBI

is a	snp
is	mentioned by
dbSNP	rs121909211
dbSNP (classic)	rs121909211
ClinGen	rs121909211
ebi	rs121909211
HLI	rs121909211
Exac	rs121909211
Gnomad	rs121909211
Varsome	rs121909211
LitVar	rs121909211
Map	rs121909211
PheGenI	rs121909211
Biobank	rs121909211
1000 genomes	rs121909211
hgdp	rs121909211
ensembl	rs121909211
geneview	rs121909211
scholar	rs121909211
google	rs121909211
pharmgkb	rs121909211
gwascentral	rs121909211
openSNP	rs121909211
23andMe	rs121909211
SNPshot	rs121909211
SNPdbe	rs121909211
MSV3d	rs121909211
GWAS Ctlg	rs121909211

Merged from

Rs121909213

Max Magnitude

0

OMIM	601692
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909211(A;A) rs121909211(T;T)
Alt	rs121909211(A;A) rs121909211(T;T)
Reference	Rs121909211(G;G)
Significance	Pathogenic
Disease	Avellino corneal dystrophy Reis-Bucklers' corneal dystrophy
Variation	info
Gene	TGFBI
CLNDBN	Avellino corneal dystrophy Reis-Bucklers' corneal dystrophy
Reversed	0
HGVS	NC_000005.9:g.135382096G>A; NC_000005.9:g.135382096G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008318.2, RCV000008321.2,