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rs57520892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5
(C;G) 4
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position156137204
GeneLMNA
is asnp
is mentioned by
dbSNPrs57520892
ebirs57520892
HLIrs57520892
Exacrs57520892
Varsomers57520892
Maprs57520892
PheGenIrs57520892
hapmaprs57520892
1000 genomesrs57520892
hgdprs57520892
ensemblrs57520892
gopubmedrs57520892
geneviewrs57520892
scholarrs57520892
googlers57520892
pharmgkbrs57520892
gwascentralrs57520892
openSNPrs57520892
23andMers57520892
23andMe allrs57520892
SNP Nexus

SNPshotrs57520892
SNPdbers57520892
MSV3drs57520892
GWAS Ctlgrs57520892
Max Magnitude5
OMIM150330
Desc
Variant0003
Relatedalso
OMIM150330
Desc
Variant0021
Relatedalso


ClinVar
Risk rs57520892(A,C;A,C)
Alt rs57520892(A,C;A,C)
Reference rs57520892(G;G)
Significance Pathogenic
Disease Mandibuloacral dysostosis Mandibuloacral dysplasia with type A lipodystrophy not provided Mandibuloacral dysplasia Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2
Variation info
Gene LMNA
CLNDBN Mandibuloacral dysostosis Mandibuloacral dysplasia with type A lipodystrophy, atypical not provided Mandibuloacral dysplasia Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2
Reversed 0
HGVS NC_000001.10:g.156106995G>A; NC_000001.10:g.156106995G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015591.26, RCV000015592.26, RCV000057326.3, RCV000148607.1, RCV000015569.25, RCV000015570.21, RCV000057327.1,



This is one of the mutations described at