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rs72547544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72547544(A;G)
Make rs72547544(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479500
GeneCHST6
is asnp
is mentioned by
dbSNPrs72547544
ebirs72547544
HLIrs72547544
Exacrs72547544
Varsomers72547544
Maprs72547544
PheGenIrs72547544
hapmaprs72547544
1000 genomesrs72547544
hgdprs72547544
ensemblrs72547544
gopubmedrs72547544
geneviewrs72547544
scholarrs72547544
googlers72547544
pharmgkbrs72547544
gwascentralrs72547544
openSNPrs72547544
23andMers72547544
23andMe allrs72547544
SNP Nexus

SNPshotrs72547544
SNPdbers72547544
MSV3drs72547544
GWAS Ctlgrs72547544
Max Magnitude0
OMIM605294
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72547544(G;G)
Alt rs72547544(G;G)
Reference rs72547544(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.75513398T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005382.5,