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rs60310264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs60310264(A;A)
Make rs60310264(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156130693
GeneLMNA
is asnp
is mentioned by
dbSNPrs60310264
dbSNP (classic)rs60310264
ClinGenrs60310264
ebirs60310264
HLIrs60310264
Exacrs60310264
Gnomadrs60310264
Varsomers60310264
LitVarrs60310264
Maprs60310264
PheGenIrs60310264
Biobankrs60310264
1000 genomesrs60310264
hgdprs60310264
ensemblrs60310264
geneviewrs60310264
scholarrs60310264
googlers60310264
pharmgkbrs60310264
gwascentralrs60310264
openSNPrs60310264
23andMers60310264
SNPshotrs60310264
SNPdbers60310264
MSV3drs60310264
GWAS Ctlgrs60310264
Max Magnitude0
OMIM150330
Desc
Variant0024
Relatedalso
ClinVar
Risk rs60310264(A;A)
Alt rs60310264(A;A)
Reference Rs60310264(G;G)
Significance Pathogenic
Disease Hutchinson-Gilford progeria syndrome not provided Hutchinson-Gilford syndrome
Variation info
Gene LMNA
CLNDBN Hutchinson-Gilford progeria syndrome, atypical not provided Hutchinson-Gilford syndrome
Reversed 0
HGVS NC_000001.10:g.156100484G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015596.22, RCV000057406.1, RCV000192009.1,