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rs1057519291

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
Position16993828
GeneATP13A2
is asnp
is mentioned by
dbSNPrs1057519291
dbSNP (old)rs1057519291
ClinGenrs1057519291
ebirs1057519291
HLIrs1057519291
Exacrs1057519291
Gnomadrs1057519291
Varsomers1057519291
Maprs1057519291
PheGenIrs1057519291
Biobankrs1057519291
1000 genomesrs1057519291
hgdprs1057519291
ensemblrs1057519291
gopubmedrs1057519291
geneviewrs1057519291
scholarrs1057519291
googlers1057519291
pharmgkbrs1057519291
gwascentralrs1057519291
openSNPrs1057519291
23andMers1057519291
23andMe allrs1057519291
SNPshotrs1057519291
SNPdbers1057519291
MSV3drs1057519291
GWAS Ctlgrs1057519291
Max Magnitude7.8

c.1550C>T (p.Thr517Ile)

ClinVar
Risk Rs1057519291(T;T)
Alt Rs1057519291(T;T)
Reference Rs1057519291(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.17320323G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415515.1,