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

rs60652225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60652225(G;G)
Make rs60652225(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156130679
GeneLMNA
is asnp
is mentioned by
dbSNPrs60652225
dbSNP (classic)rs60652225
ClinGenrs60652225
ebirs60652225
HLIrs60652225
Exacrs60652225
Gnomadrs60652225
Varsomers60652225
LitVarrs60652225
Maprs60652225
PheGenIrs60652225
Biobankrs60652225
1000 genomesrs60652225
hgdprs60652225
ensemblrs60652225
geneviewrs60652225
scholarrs60652225
googlers60652225
pharmgkbrs60652225
gwascentralrs60652225
openSNPrs60652225
23andMers60652225
SNPshotrs60652225
SNPdbers60652225
MSV3drs60652225
GWAS Ctlgrs60652225
Max Magnitude0
OMIM150330
Desc
Variant0031
Relatedalso


ClinVar
Risk rs60652225(C;C) rs60652225(G;G)
Alt rs60652225(C;C) rs60652225(G;G)
Reference Rs60652225(T;T)
Significance Pathogenic
Disease not provided Hutchinson-Gilford progeria syndrome
Variation info
Gene LMNA
CLNDBN not provided Hutchinson-Gilford progeria syndrome, childhood-onset
Reversed 0
HGVS NC_000001.10:g.156100470T>C; NC_000001.10:g.156100470T>G
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000057402.1, RCV000015601.23, RCV000057403.1,