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rs28937877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28937877(A;G)
Make rs28937877(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479308
GeneCHST6
is asnp
is mentioned by
dbSNPrs28937877
ebirs28937877
HLIrs28937877
Exacrs28937877
Varsomers28937877
Maprs28937877
PheGenIrs28937877
hapmaprs28937877
1000 genomesrs28937877
hgdprs28937877
ensemblrs28937877
gopubmedrs28937877
geneviewrs28937877
scholarrs28937877
googlers28937877
pharmgkbrs28937877
gwascentralrs28937877
openSNPrs28937877
23andMers28937877
23andMe allrs28937877
SNP Nexus

SNPshotrs28937877
SNPdbers28937877
MSV3drs28937877
GWAS Ctlgrs28937877
Max Magnitude0
OMIM605294
DescMACULAR CORNEAL DYSTROPHY, TYPE I
Variant0001
Relatedalso
Neighborrs28937879
Distance78


ClinVar
Risk rs28937877(G;G)
Alt rs28937877(G;G)
Reference rs28937877(A;A)
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.75513206T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005375.5,