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rs57218384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57218384(C;C)
Make rs57218384(C;G)
ReferenceGRCh37 37.1/132
Chromosome17
Position39023035
GeneKRT12
is asnp
is mentioned by
dbSNPrs57218384
ebirs57218384
HLIrs57218384
Exacrs57218384
Varsomers57218384
Maprs57218384
PheGenIrs57218384
hapmaprs57218384
1000 genomesrs57218384
hgdprs57218384
ensemblrs57218384
gopubmedrs57218384
geneviewrs57218384
scholarrs57218384
googlers57218384
pharmgkbrs57218384
gwascentralrs57218384
openSNPrs57218384
23andMers57218384
23andMe allrs57218384
SNP Nexus

SNPshotrs57218384
SNPdbers57218384
MSV3drs57218384
GWAS Ctlgrs57218384
Max Magnitude0
OMIM601687
Desc
Variant0001
Relatedalso
OMIM601687
Desc
Variant0004
Relatedalso


ClinVar
Risk rs57218384(C,T;C,T)
Alt rs57218384(C,T;C,T)
Reference rs57218384(G;G)
Significance Pathogenic
Disease Meesman's corneal dystrophy not provided
Variation info
Gene KRT12
CLNDBN Meesman's corneal dystrophy not provided
Reversed 1
HGVS NC_000017.10:g.39023035C>A; NC_000017.10:g.39023035C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008386.3, RCV000056422.1, RCV000008383.3, RCV000056421.1,