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rs28937878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937878(A;A)
Make rs28937878(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479220
GeneCHST6
is asnp
is mentioned by
dbSNPrs28937878
ebirs28937878
HLIrs28937878
Exacrs28937878
Varsomers28937878
Maprs28937878
PheGenIrs28937878
hapmaprs28937878
1000 genomesrs28937878
hgdprs28937878
ensemblrs28937878
gopubmedrs28937878
geneviewrs28937878
scholarrs28937878
googlers28937878
pharmgkbrs28937878
gwascentralrs28937878
openSNPrs28937878
23andMers28937878
23andMe allrs28937878
SNP Nexus

SNPshotrs28937878
SNPdbers28937878
MSV3drs28937878
GWAS Ctlgrs28937878
Max Magnitude0
OMIM605294
DescMACULAR CORNEAL DYSTROPHY, TYPE I
Variant0002
Relatedalso
Neighborrs28937879
Distance10


ClinVar
Risk rs28937878(A;A)
Alt rs28937878(A;A)
Reference rs28937878(C;C)
Significance Pathogenic
Disease Macular corneal dystrophy Type I
Variation info
Gene CHST6
CLNDBN Macular corneal dystrophy Type I
Reversed 1
HGVS NC_000016.9:g.75513118G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005376.5,