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

rs386833985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833985(A;G)
Make rs386833985(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position91055891
GeneKERA
is asnp
is mentioned by
dbSNPrs386833985
ebirs386833985
HLIrs386833985
Exacrs386833985
Varsomers386833985
Maprs386833985
PheGenIrs386833985
hapmaprs386833985
1000 genomesrs386833985
hgdprs386833985
ensemblrs386833985
gopubmedrs386833985
geneviewrs386833985
scholarrs386833985
googlers386833985
pharmgkbrs386833985
gwascentralrs386833985
openSNPrs386833985
23andMers386833985
23andMe allrs386833985
SNP Nexus

SNPshotrs386833985
SNPdbers386833985
MSV3drs386833985
GWAS Ctlgrs386833985
Max Magnitude0
ClinVar
Risk rs386833985(G;G)
Alt rs386833985(G;G)
Reference rs386833985(A;A)
Significance Probable-Pathogenic
Disease Cornea plana 2
Variation info
Gene KERA
CLNDBN Cornea plana 2
Reversed 1
HGVS NC_000012.11:g.91449668T>C
CLNSRC ClinVar
CLNACC RCV000049962.1,


[PMID 16157807] Clinical and molecular characterization of a family with autosomal recessive cornea plana.