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rs797044488

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044488(C;C)
Make rs797044488(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156138762
GeneLMNA
is asnp
is mentioned by
dbSNPrs797044488
ebirs797044488
HLIrs797044488
Exacrs797044488
Varsomers797044488
Maprs797044488
PheGenIrs797044488
hapmaprs797044488
1000 genomesrs797044488
hgdprs797044488
ensemblrs797044488
gopubmedrs797044488
geneviewrs797044488
scholarrs797044488
googlers797044488
pharmgkbrs797044488
gwascentralrs797044488
openSNPrs797044488
23andMers797044488
23andMe allrs797044488
SNP Nexus

SNPshotrs797044488
SNPdbers797044488
MSV3drs797044488
GWAS Ctlgrs797044488
Max Magnitude0
ClinVar
Risk rs797044488(A,C;A,C)
Alt rs797044488(A,C;A,C)
Reference rs797044488(G;G)
Significance Pathogenic
Disease Hutchinson-Gilford progeria syndrome Hutchinson-Gilford syndrome
Variation info
Gene LMNA
CLNDBN Hutchinson-Gilford progeria syndrome, atypical Hutchinson-Gilford syndrome
Reversed 0
HGVS NC_000001.10:g.156108553G>A; NC_000001.10:g.156108553G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190823.3, RCV000192020.1, RCV000192019.1,