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rs28937879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28937879(G;G)
Make rs28937879(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479230
GeneCHST6
is asnp
is mentioned by
dbSNPrs28937879
ebirs28937879
HLIrs28937879
Exacrs28937879
Varsomers28937879
Maprs28937879
PheGenIrs28937879
hapmaprs28937879
1000 genomesrs28937879
hgdprs28937879
ensemblrs28937879
gopubmedrs28937879
geneviewrs28937879
scholarrs28937879
googlers28937879
pharmgkbrs28937879
gwascentralrs28937879
openSNPrs28937879
23andMers28937879
23andMe allrs28937879
SNP Nexus

SNPshotrs28937879
SNPdbers28937879
MSV3drs28937879
GWAS Ctlgrs28937879
Max Magnitude0
OMIM605294
DescMACULAR CORNEAL DYSTROPHY, TYPE I
Variant0005
Relatedalso
Neighborrs28937878
Distance10
Neighborrs28937877
Distance78


ClinVar
Risk rs28937879(G;G)
Alt rs28937879(G;G)
Reference rs28937879(T;T)
Significance Pathogenic
Disease Macular corneal dystrophy Type I Macular corneal dystrophy
Variation info
Gene CHST6
CLNDBN Macular corneal dystrophy Type I Macular corneal dystrophy, type II
Reversed 1
HGVS NC_000016.9:g.75513128A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005379.5, RCV000005380.5,