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

rs60864230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs60864230(G;T)
Make rs60864230(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156130658
GeneLMNA
is asnp
is mentioned by
dbSNPrs60864230
ClinGenrs60864230
ebirs60864230
HLIrs60864230
Exacrs60864230
Varsomers60864230
Maprs60864230
PheGenIrs60864230
hapmaprs60864230
1000 genomesrs60864230
hgdprs60864230
ensemblrs60864230
gopubmedrs60864230
geneviewrs60864230
scholarrs60864230
googlers60864230
pharmgkbrs60864230
gwascentralrs60864230
openSNPrs60864230
23andMers60864230
23andMe allrs60864230
SNP Nexus

SNPshotrs60864230
SNPdbers60864230
MSV3drs60864230
GWAS Ctlgrs60864230
Max Magnitude0
OMIM150330
Desc
Variant0027
Relatedalso
OMIM150330
Desc
Variant0032
Relatedalso


ClinVar
Risk rs60864230(A;A) rs60864230(C;C) rs60864230(T;T)
Alt rs60864230(A;A) rs60864230(C;C) rs60864230(T;T)
Reference Rs60864230(G;G)
Significance Pathogenic
Disease not provided Charcot-Marie-Tooth disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2 Hutchinson-Gilford progeria syndrome Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not provided Charcot-Marie-Tooth disease, type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2 Hutchinson-Gilford progeria syndrome, childhood-onset Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000001.10:g.156100449G>A; NC_000001.10:g.156100449G>C; NC_000001.10:g.156100449G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000182356.4, RCV000204542.1, RCV000015602.25, RCV000057398.1, RCV000015577.29, RCV000015578.29, RCV000057399.1, RCV000192237.1,