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rs386833984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833984(-;-)
Make rs386833984(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position91051379
GeneKERA
is asnp
is mentioned by
dbSNPrs386833984
ebirs386833984
HLIrs386833984
Exacrs386833984
Varsomers386833984
Maprs386833984
PheGenIrs386833984
hapmaprs386833984
1000 genomesrs386833984
hgdprs386833984
ensemblrs386833984
gopubmedrs386833984
geneviewrs386833984
scholarrs386833984
googlers386833984
pharmgkbrs386833984
gwascentralrs386833984
openSNPrs386833984
23andMers386833984
23andMe allrs386833984
SNP Nexus

SNPshotrs386833984
SNPdbers386833984
MSV3drs386833984
GWAS Ctlgrs386833984
Max Magnitude0
ClinVar
Risk rs386833984(;)
Alt rs386833984(;)
Reference rs386833984(C;C)
Significance Probable-Pathogenic
Disease Cornea plana 2
Variation info
Gene KERA
CLNDBN Cornea plana 2
Reversed 1
HGVS NC_000012.11:g.91445156delG
CLNSRC ClinVar
CLNACC RCV000049961.1,


[PMID 17011957] Recessive cornea plana in the Kingdom of Saudi Arabia.