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rs1057519292

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
Position17004805
GeneATP13A2
is asnp
is mentioned by
dbSNPrs1057519292
dbSNP (classic)rs1057519292
ClinGenrs1057519292
ebirs1057519292
HLIrs1057519292
Exacrs1057519292
Gnomadrs1057519292
Varsomers1057519292
LitVarrs1057519292
Maprs1057519292
PheGenIrs1057519292
Biobankrs1057519292
1000 genomesrs1057519292
hgdprs1057519292
ensemblrs1057519292
geneviewrs1057519292
scholarrs1057519292
googlers1057519292
pharmgkbrs1057519292
gwascentralrs1057519292
openSNPrs1057519292
23andMers1057519292
23andMe allrs1057519292
SNPshotrs1057519292
SNPdbers1057519292
MSV3drs1057519292
GWAS Ctlgrs1057519292
Max Magnitude7.8

c.364C>T (p.Gln122Ter)

ClinVar
Risk Rs1057519292(T;T)
Alt Rs1057519292(T;T)
Reference Rs1057519292(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.17331300G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415546.1,