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rs1057516390

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516390(-;-)
Make rs1057516390(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position76995901
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs1057516390
dbSNP (old)rs1057516390
ClinGenrs1057516390
ebirs1057516390
HLIrs1057516390
Exacrs1057516390
Gnomadrs1057516390
Varsomers1057516390
Maprs1057516390
PheGenIrs1057516390
Biobankrs1057516390
1000 genomesrs1057516390
hgdprs1057516390
ensemblrs1057516390
gopubmedrs1057516390
geneviewrs1057516390
scholarrs1057516390
googlers1057516390
pharmgkbrs1057516390
gwascentralrs1057516390
openSNPrs1057516390
23andMers1057516390
23andMe allrs1057516390
SNP Nexus

SNPshotrs1057516390
SNPdbers1057516390
MSV3drs1057516390
GWAS Ctlgrs1057516390
Max Magnitude0
ClinVar
Risk rs1057516390(-;-)
Alt rs1057516390(-;-)
Reference Rs1057516390(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77570036delG
CLNSRC
CLNACC RCV000409719.1,