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rs121912493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912493(A;A)
Make rs121912493(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136374
GeneLMNA
is asnp
is mentioned by
dbSNPrs121912493
ebirs121912493
HLIrs121912493
Exacrs121912493
Varsomers121912493
Maprs121912493
PheGenIrs121912493
hapmaprs121912493
1000 genomesrs121912493
hgdprs121912493
ensemblrs121912493
gopubmedrs121912493
geneviewrs121912493
scholarrs121912493
googlers121912493
pharmgkbrs121912493
gwascentralrs121912493
openSNPrs121912493
23andMers121912493
23andMe allrs121912493
SNP Nexus

SNPshotrs121912493
SNPdbers121912493
MSV3drs121912493
GWAS Ctlgrs121912493
Max Magnitude0
OMIM150330
Desc
Variant0044
Relatedalso
ClinVar
Risk rs121912493(A;A)
Alt rs121912493(A;A)
Reference rs121912493(G;G)
Significance Pathogenic
Disease Mandibuloacral dysplasia with type A lipodystrophy not provided
Variation info
Gene LMNA
CLNDBN Mandibuloacral dysplasia with type A lipodystrophy, atypical not provided
Reversed 0
HGVS NC_000001.10:g.156106165G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015617.21, RCV000057268.1,