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rs121912496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912496(C;T)
Make rs121912496(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156134910
GeneLMNA
is asnp
is mentioned by
dbSNPrs121912496
ebirs121912496
HLIrs121912496
Exacrs121912496
Varsomers121912496
Maprs121912496
PheGenIrs121912496
hapmaprs121912496
1000 genomesrs121912496
hgdprs121912496
ensemblrs121912496
gopubmedrs121912496
geneviewrs121912496
scholarrs121912496
googlers121912496
pharmgkbrs121912496
gwascentralrs121912496
openSNPrs121912496
23andMers121912496
23andMe allrs121912496
SNP Nexus

SNPshotrs121912496
SNPdbers121912496
MSV3drs121912496
GWAS Ctlgrs121912496
Max Magnitude0
OMIM150330
Desc
Variant0048
Relatedalso
ClinVar
Risk rs121912496(G,T;G,T)
Alt rs121912496(G,T;G,T)
Reference rs121912496(C;C)
Significance Pathogenic
Disease not specified Congenital muscular dystrophy not provided Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Variation info
Gene LMNA
CLNDBN not specified Congenital muscular dystrophy, LMNA-related not provided Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.156104701C>G; NC_000001.10:g.156104701C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000041362.3, RCV000015621.27, RCV000057452.2, RCV000201142.1,