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rs121909486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909486(A;A)
Make rs121909486(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position126693589
GeneLMX1B
is asnp
is mentioned by
dbSNPrs121909486
dbSNP (classic)rs121909486
ClinGenrs121909486
ebirs121909486
HLIrs121909486
Exacrs121909486
Gnomadrs121909486
Varsomers121909486
LitVarrs121909486
Maprs121909486
PheGenIrs121909486
Biobankrs121909486
1000 genomesrs121909486
hgdprs121909486
ensemblrs121909486
geneviewrs121909486
scholarrs121909486
googlers121909486
pharmgkbrs121909486
gwascentralrs121909486
openSNPrs121909486
23andMers121909486
SNPshotrs121909486
SNPdbers121909486
MSV3drs121909486
GWAS Ctlgrs121909486
Max Magnitude0
OMIM602575
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909486(A;A) rs121909486(T;T)
Alt rs121909486(A;A) rs121909486(T;T)
Reference Rs121909486(C;C)
Significance Pathogenic
Disease Nail-patella syndrome
Variation info
Gene LMX1B
CLNDBN Nail-patella syndrome
Reversed 0
HGVS NC_000009.11:g.129455868C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007415.2,