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rs60890628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60890628(C;T)
Make rs60890628(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156138507
GeneLMNA
is asnp
is mentioned by
dbSNPrs60890628
dbSNP (classic)rs60890628
ClinGenrs60890628
ebirs60890628
HLIrs60890628
Exacrs60890628
Gnomadrs60890628
Varsomers60890628
LitVarrs60890628
Maprs60890628
PheGenIrs60890628
Biobankrs60890628
1000 genomesrs60890628
hgdprs60890628
ensemblrs60890628
geneviewrs60890628
scholarrs60890628
googlers60890628
pharmgkbrs60890628
gwascentralrs60890628
openSNPrs60890628
23andMers60890628
SNPshotrs60890628
SNPdbers60890628
MSV3drs60890628
GWAS Ctlgrs60890628
Max Magnitude0
OMIM150330
Desc
Variant0041
Relatedalso


ClinVar
Risk rs60890628(T;T)
Alt rs60890628(T;T)
Reference Rs60890628(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy 2 not specified not provided
Variation info
Gene LMNA
CLNDBN Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy, atypical Familial partial lipodystrophy 2 not specified not provided
Reversed 0
HGVS NC_000001.10:g.156108298C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015612.26, RCV000015613.26, RCV000015614.22, RCV000041329.3, RCV000057351.1,