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

rs869312751

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312751(C;T)
Make rs869312751(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position76996109
GeneCLN5
is asnp
is mentioned by
dbSNPrs869312751
ebirs869312751
HLIrs869312751
Exacrs869312751
Varsomers869312751
Maprs869312751
PheGenIrs869312751
hapmaprs869312751
1000 genomesrs869312751
hgdprs869312751
ensemblrs869312751
gopubmedrs869312751
geneviewrs869312751
scholarrs869312751
googlers869312751
pharmgkbrs869312751
gwascentralrs869312751
openSNPrs869312751
23andMers869312751
23andMe allrs869312751
SNP Nexus

SNPshotrs869312751
SNPdbers869312751
MSV3drs869312751
GWAS Ctlgrs869312751
Max Magnitude0
ClinVar
Risk rs869312751(T;T)
Alt rs869312751(T;T)
Reference rs869312751(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77570244C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210062.2,