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rs431825170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a Weill-Marchesani syndrome 1 mutation
(G;G) 0 common in clinvar


Make rs431825170(A;A)
ReferenceGRCh37.p10 37.5/138
Chromosome19
Position8596306
GeneADAMTS10
is asnp
is mentioned by
dbSNPrs431825170
dbSNP (classic)rs431825170
ClinGenrs431825170
ebirs431825170
HLIrs431825170
Exacrs431825170
Gnomadrs431825170
Varsomers431825170
LitVarrs431825170
Maprs431825170
PheGenIrs431825170
Biobankrs431825170
1000 genomesrs431825170
hgdprs431825170
ensemblrs431825170
geneviewrs431825170
scholarrs431825170
googlers431825170
pharmgkbrs431825170
gwascentralrs431825170
openSNPrs431825170
23andMers431825170
SNPshotrs431825170
SNPdbers431825170
MSV3drs431825170
GWAS Ctlgrs431825170
Max Magnitude3
ClinVar
Risk rs431825170(A;A)
Alt rs431825170(A;A)
Reference Rs431825170(G;G)
Significance Pathogenic
Disease Weill-Marchesani syndrome 1
Variation info
Gene ADAMTS10
CLNDBN Weill-Marchesani syndrome 1
Reversed 1
HGVS NC_000019.9:g.8661190C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002022.3,