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rs121434415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434415(A;G)
Make rs121434415(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7556507
GenePNPLA6
is asnp
is mentioned by
dbSNPrs121434415
dbSNP (classic)rs121434415
ClinGenrs121434415
ebirs121434415
HLIrs121434415
Exacrs121434415
Gnomadrs121434415
Varsomers121434415
LitVarrs121434415
Maprs121434415
PheGenIrs121434415
Biobankrs121434415
1000 genomesrs121434415
hgdprs121434415
ensemblrs121434415
geneviewrs121434415
scholarrs121434415
googlers121434415
pharmgkbrs121434415
gwascentralrs121434415
openSNPrs121434415
23andMers121434415
SNPshotrs121434415
SNPdbers121434415
MSV3drs121434415
GWAS Ctlgrs121434415
Max Magnitude0
OMIM603197
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434415(G;G)
Alt rs121434415(G;G)
Reference Rs121434415(A;A)
Significance Pathogenic
Disease Spastic paraplegia 39
Variation info
Gene PNPLA6
CLNDBN Spastic paraplegia 39
Reversed 0
HGVS NC_000019.9:g.7621393A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006984.2,