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rs121917860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917860(C;T)
Make rs121917860(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position91055762
GeneKERA
is asnp
is mentioned by
dbSNPrs121917860
dbSNP (classic)rs121917860
ClinGenrs121917860
ebirs121917860
HLIrs121917860
Exacrs121917860
Gnomadrs121917860
Varsomers121917860
LitVarrs121917860
Maprs121917860
PheGenIrs121917860
Biobankrs121917860
1000 genomesrs121917860
hgdprs121917860
ensemblrs121917860
geneviewrs121917860
scholarrs121917860
googlers121917860
pharmgkbrs121917860
gwascentralrs121917860
openSNPrs121917860
23andMers121917860
SNPshotrs121917860
SNPdbers121917860
MSV3drs121917860
GWAS Ctlgrs121917860
Max Magnitude0
ClinVar
Risk rs121917860(T;T)
Alt rs121917860(T;T)
Reference Rs121917860(C;C)
Significance Pathogenic
Disease Cornea plana 2
Variation info
Gene KERA
CLNDBN Cornea plana 2
Reversed 1
HGVS NC_000012.11:g.91449539G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006893.2,