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rs1057519293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a spastic paraplegia mutation (type 78)
(T;T) 7.8 Spastic paraplegia, type 78
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position16996262
GeneATP13A2
is asnp
is mentioned by
dbSNPrs1057519293
dbSNP (old)rs1057519293
ClinGenrs1057519293
ebirs1057519293
HLIrs1057519293
Exacrs1057519293
Gnomadrs1057519293
Varsomers1057519293
LitVarrs1057519293
Maprs1057519293
PheGenIrs1057519293
Biobankrs1057519293
1000 genomesrs1057519293
hgdprs1057519293
ensemblrs1057519293
gopubmedrs1057519293
geneviewrs1057519293
scholarrs1057519293
googlers1057519293
pharmgkbrs1057519293
gwascentralrs1057519293
openSNPrs1057519293
23andMers1057519293
23andMe allrs1057519293
SNPshotrs1057519293
SNPdbers1057519293
MSV3drs1057519293
GWAS Ctlgrs1057519293
Max Magnitude7.8

c.1345C>T (p.Arg449Ter)

ClinVar
Risk Rs1057519293(T;T)
Alt Rs1057519293(T;T)
Reference Rs1057519293(C;C)
Significance Pathogenic
Disease Spastic paraplegia 78
Variation info
Gene ATP13A2
CLNDBN Spastic paraplegia 78, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.17322757G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415578.1,