Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7.8 Spastic paraplegia, type 78
(-;TCT) 3 Carrier of a spastic paraplegia mutation (type 78)
(TCT;TCT) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position16986886
GeneATP13A2
is asnp
is mentioned by
dbSNPrs1057519290
dbSNP (old)rs1057519290
ClinGenrs1057519290
ebirs1057519290
HLIrs1057519290
Exacrs1057519290
Gnomadrs1057519290
Varsomers1057519290
LitVarrs1057519290
Maprs1057519290
PheGenIrs1057519290
Biobankrs1057519290
1000 genomesrs1057519290
hgdprs1057519290
ensemblrs1057519290
gopubmedrs1057519290
geneviewrs1057519290
scholarrs1057519290
googlers1057519290
pharmgkbrs1057519290
gwascentralrs1057519290
openSNPrs1057519290
23andMers1057519290
23andMe allrs1057519290
SNPshotrs1057519290
SNPdbers1057519290
MSV3drs1057519290
GWAS Ctlgrs1057519290
Max Magnitude7.8

c.3152_3154delTCT (p.Phe1051del)

ClinVar
Risk Rs1057519290(-;-)
Alt Rs1057519290(-;-)
Reference Rs1057519290(TCT;TCT)
Significance Pathogenic
Disease Spastic paraplegia 78
Variation info
Gene ATP13A2
CLNDBN Spastic paraplegia 78, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.17313381_17313383delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415585.1,