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rs57872071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57872071(A;A)
Make rs57872071(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52791216
GeneKRT3
is asnp
is mentioned by
dbSNPrs57872071
dbSNP (classic)rs57872071
ClinGenrs57872071
ebirs57872071
HLIrs57872071
Exacrs57872071
Gnomadrs57872071
Varsomers57872071
LitVarrs57872071
Maprs57872071
PheGenIrs57872071
Biobankrs57872071
1000 genomesrs57872071
hgdprs57872071
ensemblrs57872071
geneviewrs57872071
scholarrs57872071
googlers57872071
pharmgkbrs57872071
gwascentralrs57872071
openSNPrs57872071
23andMers57872071
SNPshotrs57872071
SNPdbers57872071
MSV3drs57872071
GWAS Ctlgrs57872071
Max Magnitude0
OMIM148043
Desc
Variant0001
Relatedalso


ClinVar
Risk rs57872071(A;A)
Alt rs57872071(A;A)
Reference Rs57872071(G;G)
Significance Pathogenic
Disease Meesman's corneal dystrophy not provided
Variation info
Gene KRT3
CLNDBN Meesman's corneal dystrophy not provided
Reversed 1
HGVS NC_000012.11:g.53185000C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015738.25, RCV000057204.1,