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rs387906291

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs387906291(-;G)
Make rs387906291(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position100048989
GeneADAMTS17
is asnp
is mentioned by
dbSNPrs387906291
dbSNP (classic)rs387906291
ClinGenrs387906291
ebirs387906291
HLIrs387906291
Exacrs387906291
Gnomadrs387906291
Varsomers387906291
LitVarrs387906291
Maprs387906291
PheGenIrs387906291
Biobankrs387906291
1000 genomesrs387906291
hgdprs387906291
ensemblrs387906291
geneviewrs387906291
scholarrs387906291
googlers387906291
pharmgkbrs387906291
gwascentralrs387906291
openSNPrs387906291
23andMers387906291
SNPshotrs387906291
SNPdbers387906291
MSV3drs387906291
GWAS Ctlgrs387906291
Max Magnitude0
ClinVar
Risk rs387906291(G;G)
Alt rs387906291(G;G)
Reference Rs387906291(-;-)
Significance Pathogenic
Disease Weill-Marchesani-like syndrome
Variation info
Gene ADAMTS17
CLNDBN Weill-Marchesani-like syndrome
Reversed 1
HGVS NC_000015.9:g.100589195dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003303.3,