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rs80358224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358224(C;T)
Make rs80358224(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position58576538
GeneTACSTD2
is asnp
is mentioned by
dbSNPrs80358224
dbSNP (classic)rs80358224
ClinGenrs80358224
ebirs80358224
HLIrs80358224
Exacrs80358224
Gnomadrs80358224
Varsomers80358224
LitVarrs80358224
Maprs80358224
PheGenIrs80358224
Biobankrs80358224
1000 genomesrs80358224
hgdprs80358224
ensemblrs80358224
geneviewrs80358224
scholarrs80358224
googlers80358224
pharmgkbrs80358224
gwascentralrs80358224
openSNPrs80358224
23andMers80358224
SNPshotrs80358224
SNPdbers80358224
MSV3drs80358224
GWAS Ctlgrs80358224
Max Magnitude0
OMIM137290
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358224(T;T)
Alt rs80358224(T;T)
Reference Rs80358224(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.59042210G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017567.27,