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rs1057516220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057516220(-;-)
Make rs1057516220(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position76992231
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs1057516220
dbSNP (old)rs1057516220
ClinGenrs1057516220
ebirs1057516220
HLIrs1057516220
Exacrs1057516220
Gnomadrs1057516220
Varsomers1057516220
Maprs1057516220
PheGenIrs1057516220
Biobankrs1057516220
1000 genomesrs1057516220
hgdprs1057516220
ensemblrs1057516220
gopubmedrs1057516220
geneviewrs1057516220
scholarrs1057516220
googlers1057516220
pharmgkbrs1057516220
gwascentralrs1057516220
openSNPrs1057516220
23andMers1057516220
23andMe allrs1057516220
SNPshotrs1057516220
SNPdbers1057516220
MSV3drs1057516220
GWAS Ctlgrs1057516220
Max Magnitude0
ClinVar
Risk rs1057516220(-;-)
Alt rs1057516220(-;-)
Reference Rs1057516220(TC;TC)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77566366_77566367delTC
CLNSRC
CLNACC RCV000409209.1,