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rs267606638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606638(C;T)
Make rs267606638(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position100281258
GeneADAMTS17
is asnp
is mentioned by
dbSNPrs267606638
dbSNP (classic)rs267606638
ClinGenrs267606638
ebirs267606638
HLIrs267606638
Exacrs267606638
Gnomadrs267606638
Varsomers267606638
LitVarrs267606638
Maprs267606638
PheGenIrs267606638
Biobankrs267606638
1000 genomesrs267606638
hgdprs267606638
ensemblrs267606638
geneviewrs267606638
scholarrs267606638
googlers267606638
pharmgkbrs267606638
gwascentralrs267606638
openSNPrs267606638
23andMers267606638
SNPshotrs267606638
SNPdbers267606638
MSV3drs267606638
GWAS Ctlgrs267606638
Max Magnitude0
ClinVar
Risk rs267606638(T;T)
Alt rs267606638(T;T)
Reference Rs267606638(C;C)
Significance Pathogenic
Disease Weill-Marchesani-like syndrome
Variation info
Gene ADAMTS17
CLNDBN Weill-Marchesani-like syndrome
Reversed 1
HGVS NC_000015.9:g.100821463G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003304.2,