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rs121912494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912494(A;A)
Make rs121912494(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137209
GeneLMNA
is asnp
is mentioned by
dbSNPrs121912494
dbSNP (classic)rs121912494
ClinGenrs121912494
ebirs121912494
HLIrs121912494
Exacrs121912494
Gnomadrs121912494
Varsomers121912494
LitVarrs121912494
Maprs121912494
PheGenIrs121912494
Biobankrs121912494
1000 genomesrs121912494
hgdprs121912494
ensemblrs121912494
geneviewrs121912494
scholarrs121912494
googlers121912494
pharmgkbrs121912494
gwascentralrs121912494
openSNPrs121912494
23andMers121912494
SNPshotrs121912494
SNPdbers121912494
MSV3drs121912494
GWAS Ctlgrs121912494
Max Magnitude0
OMIM150330
Desc
Variant0046
Relatedalso
ClinVar
Risk rs121912494(A;A)
Alt rs121912494(A;A)
Reference Rs121912494(G;G)
Significance Pathogenic
Disease Mandibuloacral dysostosis not provided
Variation info
Gene LMNA
CLNDBN Mandibuloacral dysostosis not provided
Reversed 0
HGVS NC_000001.10:g.156107000G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015619.26, RCV000057331.1,