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rs1057519591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs1057519591(-;-)
Make rs1057519591(-;TCT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position1757340
GeneCTSD
is asnp
is mentioned by
dbSNPrs1057519591
dbSNP (classic)rs1057519591
ClinGenrs1057519591
ebirs1057519591
HLIrs1057519591
Exacrs1057519591
Gnomadrs1057519591
Varsomers1057519591
LitVarrs1057519591
Maprs1057519591
PheGenIrs1057519591
Biobankrs1057519591
1000 genomesrs1057519591
hgdprs1057519591
ensemblrs1057519591
geneviewrs1057519591
scholarrs1057519591
googlers1057519591
pharmgkbrs1057519591
gwascentralrs1057519591
openSNPrs1057519591
23andMers1057519591
23andMe allrs1057519591
SNPshotrs1057519591
SNPdbers1057519591
MSV3drs1057519591
GWAS Ctlgrs1057519591
Max Magnitude0
ClinVar
Risk rs1057519591(-;-)
Alt rs1057519591(-;-)
Reference Rs1057519591(TCT;TCT)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 10
Variation info
Gene CTSD
CLNDBN Ceroid lipofuscinosis neuronal 10
Reversed 1
HGVS NC_000011.9:g.1778570_1778572delAGA
CLNSRC
CLNACC RCV000417103.1,