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rs57629361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs57629361(A;A)
Make rs57629361(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position156137207
GeneLMNA
is asnp
is mentioned by
dbSNPrs57629361
dbSNP (old)rs57629361
ClinGenrs57629361
ebirs57629361
HLIrs57629361
Exacrs57629361
Gnomadrs57629361
Varsomers57629361
Maprs57629361
PheGenIrs57629361
Biobankrs57629361
1000 genomesrs57629361
hgdprs57629361
ensemblrs57629361
gopubmedrs57629361
geneviewrs57629361
scholarrs57629361
googlers57629361
pharmgkbrs57629361
gwascentralrs57629361
openSNPrs57629361
23andMers57629361
23andMe allrs57629361
SNP Nexus

SNPshotrs57629361
SNPdbers57629361
MSV3drs57629361
GWAS Ctlgrs57629361
Max Magnitude0
ClinVar
Risk rs57629361(A;A) rs57629361(G;G) rs57629361(T;T)
Alt rs57629361(A;A) rs57629361(G;G) rs57629361(T;T)
Reference Rs57629361(C;C)
Significance Pathogenic
Disease not provided Mandibuloacral dysostosis Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not provided Mandibuloacral dysostosis Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.156106998C>A; NC_000001.10:g.156106998C>G; NC_000001.10:g.156106998C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000057328.3, RCV000180622.1, RCV000201062.1, RCV000057329.1, RCV000180620.1, RCV000472329.1, RCV000057330.1,