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rs386833986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833986(C;T)
Make rs386833986(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position91055447
GeneKERA
is asnp
is mentioned by
dbSNPrs386833986
ebirs386833986
HLIrs386833986
Exacrs386833986
Varsomers386833986
Maprs386833986
PheGenIrs386833986
hapmaprs386833986
1000 genomesrs386833986
hgdprs386833986
ensemblrs386833986
gopubmedrs386833986
geneviewrs386833986
scholarrs386833986
googlers386833986
pharmgkbrs386833986
gwascentralrs386833986
openSNPrs386833986
23andMers386833986
23andMe allrs386833986
SNP Nexus

SNPshotrs386833986
SNPdbers386833986
MSV3drs386833986
GWAS Ctlgrs386833986
Max Magnitude0
ClinVar
Risk rs386833986(T;T)
Alt rs386833986(T;T)
Reference rs386833986(C;C)
Significance Other
Disease Cornea plana 2
Variation info
Gene KERA
CLNDBN Cornea plana 2
Reversed 1
HGVS NC_000012.11:g.91449224G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000049963.2,


[PMID 16234475OA-icon.png] Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.