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rs121434416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434416(A;A)
Make rs121434416(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7555041
GenePNPLA6
is asnp
is mentioned by
dbSNPrs121434416
dbSNP (classic)rs121434416
ClinGenrs121434416
ebirs121434416
HLIrs121434416
Exacrs121434416
Gnomadrs121434416
Varsomers121434416
LitVarrs121434416
Maprs121434416
PheGenIrs121434416
Biobankrs121434416
1000 genomesrs121434416
hgdprs121434416
ensemblrs121434416
geneviewrs121434416
scholarrs121434416
googlers121434416
pharmgkbrs121434416
gwascentralrs121434416
openSNPrs121434416
23andMers121434416
SNPshotrs121434416
SNPdbers121434416
MSV3drs121434416
GWAS Ctlgrs121434416
Max Magnitude0
OMIM603197
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434416(A;A)
Alt rs121434416(A;A)
Reference Rs121434416(G;G)
Significance Pathogenic
Disease Spastic paraplegia 39
Variation info
Gene PNPLA6
CLNDBN Spastic paraplegia 39
Reversed 0
HGVS NC_000019.9:g.7619927G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006985.3,