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rs80358223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358223(C;T)
Make rs80358223(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position58576805
GeneTACSTD2
is asnp
is mentioned by
dbSNPrs80358223
dbSNP (classic)rs80358223
ClinGenrs80358223
ebirs80358223
HLIrs80358223
Exacrs80358223
Gnomadrs80358223
Varsomers80358223
LitVarrs80358223
Maprs80358223
PheGenIrs80358223
Biobankrs80358223
1000 genomesrs80358223
hgdprs80358223
ensemblrs80358223
geneviewrs80358223
scholarrs80358223
googlers80358223
pharmgkbrs80358223
gwascentralrs80358223
openSNPrs80358223
23andMers80358223
SNPshotrs80358223
SNPdbers80358223
MSV3drs80358223
GWAS Ctlgrs80358223
Max Magnitude0
OMIM137290
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358223(T;T)
Alt rs80358223(T;T)
Reference Rs80358223(C;C)
Significance Pathogenic
Disease Lattice corneal dystrophy Type III
Variation info
Gene TACSTD2
CLNDBN Lattice corneal dystrophy Type III
Reversed 1
HGVS NC_000001.10:g.59042477G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017566.27,