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rs397515468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515468(C;C)
Make rs397515468(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position77367614
GeneADAMTS18
is asnp
is mentioned by
dbSNPrs397515468
dbSNP (classic)rs397515468
ClinGenrs397515468
ebirs397515468
HLIrs397515468
Exacrs397515468
Gnomadrs397515468
Varsomers397515468
LitVarrs397515468
Maprs397515468
PheGenIrs397515468
Biobankrs397515468
1000 genomesrs397515468
hgdprs397515468
ensemblrs397515468
geneviewrs397515468
scholarrs397515468
googlers397515468
pharmgkbrs397515468
gwascentralrs397515468
openSNPrs397515468
23andMers397515468
SNPshotrs397515468
SNPdbers397515468
MSV3drs397515468
GWAS Ctlgrs397515468
Max Magnitude0
ClinVar
Risk rs397515468(C;C)
Alt rs397515468(C;C)
Reference Rs397515468(T;T)
Significance Pathogenic
Disease Microcornea
Variation info
Gene ADAMTS18
CLNDBN Microcornea, myopic chorioretinal atrophy, and telecanthus
Reversed 1
HGVS NC_000016.9:g.77401511A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056280.2,