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rs80358225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358225(A;A)
Make rs80358225(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position58576648
GeneTACSTD2
is asnp
is mentioned by
dbSNPrs80358225
dbSNP (classic)rs80358225
ClinGenrs80358225
ebirs80358225
HLIrs80358225
Exacrs80358225
Gnomadrs80358225
Varsomers80358225
LitVarrs80358225
Maprs80358225
PheGenIrs80358225
Biobankrs80358225
1000 genomesrs80358225
hgdprs80358225
ensemblrs80358225
geneviewrs80358225
scholarrs80358225
googlers80358225
pharmgkbrs80358225
gwascentralrs80358225
openSNPrs80358225
23andMers80358225
SNPshotrs80358225
SNPdbers80358225
MSV3drs80358225
GWAS Ctlgrs80358225
Max Magnitude0
OMIM137290
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358225(A;A)
Alt rs80358225(A;A)
Reference Rs80358225(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.59042320G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017568.23,