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rs1057516814

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057516814(G;G)
Make rs1057516814(G;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position76992171
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs1057516814
dbSNP (old)rs1057516814
ClinGenrs1057516814
ebirs1057516814
HLIrs1057516814
Exacrs1057516814
Gnomadrs1057516814
Varsomers1057516814
Maprs1057516814
PheGenIrs1057516814
Biobankrs1057516814
1000 genomesrs1057516814
hgdprs1057516814
ensemblrs1057516814
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googlers1057516814
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gwascentralrs1057516814
openSNPrs1057516814
23andMers1057516814
23andMe allrs1057516814
SNP Nexus

SNPshotrs1057516814
SNPdbers1057516814
MSV3drs1057516814
GWAS Ctlgrs1057516814
Max Magnitude0
ClinVar
Risk rs1057516814(G;G)
Alt rs1057516814(G;G)
Reference Rs1057516814(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.77566306_77566307delTCinsG
CLNSRC
CLNACC RCV000410812.1,