Have questions? Visit https://www.reddit.com/r/SNPedia

rs58912633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58912633(C;T)
Make rs58912633(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156130688
GeneLMNA
is asnp
is mentioned by
dbSNPrs58912633
ebirs58912633
HLIrs58912633
Exacrs58912633
Varsomers58912633
Maprs58912633
PheGenIrs58912633
hapmaprs58912633
1000 genomesrs58912633
hgdprs58912633
ensemblrs58912633
gopubmedrs58912633
geneviewrs58912633
scholarrs58912633
googlers58912633
pharmgkbrs58912633
gwascentralrs58912633
openSNPrs58912633
23andMers58912633
23andMe allrs58912633
SNP Nexus

SNPshotrs58912633
SNPdbers58912633
MSV3drs58912633
GWAS Ctlgrs58912633
Max Magnitude0
OMIM150330
Desc
Variant0034
Relatedalso


ClinVar
Risk rs58912633(T;T)
Alt rs58912633(T;T)
Reference rs58912633(C;C)
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.156100479C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015604.25, RCV000057405.1,