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rs121912495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912495(C;C)
Make rs121912495(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136103
GeneLMNA
is asnp
is mentioned by
dbSNPrs121912495
ebirs121912495
HLIrs121912495
Exacrs121912495
Varsomers121912495
Maprs121912495
PheGenIrs121912495
hapmaprs121912495
1000 genomesrs121912495
hgdprs121912495
ensemblrs121912495
gopubmedrs121912495
geneviewrs121912495
scholarrs121912495
googlers121912495
pharmgkbrs121912495
gwascentralrs121912495
openSNPrs121912495
23andMers121912495
23andMe allrs121912495
SNP Nexus

SNPshotrs121912495
SNPdbers121912495
MSV3drs121912495
GWAS Ctlgrs121912495
Max Magnitude0
OMIM150330
Desc
Variant0047
Relatedalso
ClinVar
Risk rs121912495(C;C)
Alt rs121912495(C;C)
Reference rs121912495(T;T)
Significance Pathogenic
Disease Congenital muscular dystrophy not provided
Variation info
Gene LMNA
CLNDBN Congenital muscular dystrophy, LMNA-related not provided
Reversed 0
HGVS NC_000001.10:g.156105894T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015620.25, RCV000057237.1,