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rs28936695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28936695(C;C)
Make rs28936695(C;T)
ReferenceGRCh37 37.1/131
Chromosome17
Position39023053
GeneKRT12
is asnp
is mentioned by
dbSNPrs28936695
ebirs28936695
HLIrs28936695
Exacrs28936695
Varsomers28936695
Maprs28936695
PheGenIrs28936695
hapmaprs28936695
1000 genomesrs28936695
hgdprs28936695
ensemblrs28936695
gopubmedrs28936695
geneviewrs28936695
scholarrs28936695
googlers28936695
pharmgkbrs28936695
gwascentralrs28936695
openSNPrs28936695
23andMers28936695
23andMe allrs28936695
SNP Nexus

SNPshotrs28936695
SNPdbers28936695
MSV3drs28936695
GWAS Ctlgrs28936695
Max Magnitude0
OMIM601687
DescMEESMANN CORNEAL DYSTROPHY
Variant0007
Relatedalso
Neighborrs11650915
Distance343


ClinVar
Risk rs28936695(C;C)
Alt rs28936695(C;C)
Reference rs28936695(T;T)
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.39023053A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008389.2, RCV000056417.1,