Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917863(C;T)
Make rs121917863(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position91051468
GeneKERA
is asnp
is mentioned by
dbSNPrs121917863
dbSNP (classic)rs121917863
ClinGenrs121917863
ebirs121917863
HLIrs121917863
Exacrs121917863
Gnomadrs121917863
Varsomers121917863
LitVarrs121917863
Maprs121917863
PheGenIrs121917863
Biobankrs121917863
1000 genomesrs121917863
hgdprs121917863
ensemblrs121917863
geneviewrs121917863
scholarrs121917863
googlers121917863
pharmgkbrs121917863
gwascentralrs121917863
openSNPrs121917863
23andMers121917863
SNPshotrs121917863
SNPdbers121917863
MSV3drs121917863
GWAS Ctlgrs121917863
Max Magnitude0
ClinVar
Risk rs121917863(G;G) rs121917863(T;T)
Alt rs121917863(G;G) rs121917863(T;T)
Reference Rs121917863(C;C)
Significance Pathogenic
Disease Cornea plana 2
Variation info
Gene KERA
CLNDBN Cornea plana 2
Reversed 1
HGVS NC_000012.11:g.91445245G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006895.2,