Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519289

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
Position16986346
GeneATP13A2
is asnp
is mentioned by
dbSNPrs1057519289
dbSNP (old)rs1057519289
ClinGenrs1057519289
ebirs1057519289
HLIrs1057519289
Exacrs1057519289
Gnomadrs1057519289
Varsomers1057519289
Maprs1057519289
PheGenIrs1057519289
Biobankrs1057519289
1000 genomesrs1057519289
hgdprs1057519289
ensemblrs1057519289
gopubmedrs1057519289
geneviewrs1057519289
scholarrs1057519289
googlers1057519289
pharmgkbrs1057519289
gwascentralrs1057519289
openSNPrs1057519289
23andMers1057519289
23andMe allrs1057519289
SNPshotrs1057519289
SNPdbers1057519289
MSV3drs1057519289
GWAS Ctlgrs1057519289
Max Magnitude7.8

c.3418C>T (p.Gln1140Ter)

ClinVar
Risk Rs1057519289(T;T)
Alt Rs1057519289(T;T)
Reference Rs1057519289(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.17312841G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415542.1,