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rs797044485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044485(A;A)
Make rs797044485(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156134832
GeneLMNA
is asnp
is mentioned by
dbSNPrs797044485
dbSNP (classic)rs797044485
ClinGenrs797044485
ebirs797044485
HLIrs797044485
Exacrs797044485
Gnomadrs797044485
Varsomers797044485
LitVarrs797044485
Maprs797044485
PheGenIrs797044485
Biobankrs797044485
1000 genomesrs797044485
hgdprs797044485
ensemblrs797044485
geneviewrs797044485
scholarrs797044485
googlers797044485
pharmgkbrs797044485
gwascentralrs797044485
openSNPrs797044485
23andMers797044485
SNPshotrs797044485
SNPdbers797044485
MSV3drs797044485
GWAS Ctlgrs797044485
Max Magnitude0
ClinVar
Risk rs797044485(A;A)
Alt rs797044485(A;A)
Reference Rs797044485(G;G)
Significance Pathogenic
Disease Hutchinson-Gilford syndrome
Variation info
Gene LMNA
CLNDBN Hutchinson-Gilford syndrome
Reversed 0
HGVS NC_000001.10:g.156104623G>A
CLNSRC
CLNACC RCV000192010.1,