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rs397515469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515469(C;T)
Make rs397515469(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position77434499
GeneADAMTS18
is asnp
is mentioned by
dbSNPrs397515469
dbSNP (classic)rs397515469
ClinGenrs397515469
ebirs397515469
HLIrs397515469
Exacrs397515469
Gnomadrs397515469
Varsomers397515469
LitVarrs397515469
Maprs397515469
PheGenIrs397515469
Biobankrs397515469
1000 genomesrs397515469
hgdprs397515469
ensemblrs397515469
geneviewrs397515469
scholarrs397515469
googlers397515469
pharmgkbrs397515469
gwascentralrs397515469
openSNPrs397515469
23andMers397515469
SNPshotrs397515469
SNPdbers397515469
MSV3drs397515469
GWAS Ctlgrs397515469
Max Magnitude0
ClinVar
Risk rs397515469(T;T)
Alt rs397515469(T;T)
Reference Rs397515469(C;C)
Significance Pathogenic
Disease Microcornea
Variation info
Gene ADAMTS18
CLNDBN Microcornea, myopic chorioretinal atrophy, and telecanthus
Reversed 1
HGVS NC_000016.9:g.77468396G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056281.2,