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rs587779397

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779397(-;-)
Make rs587779397(-;T)
Make rs587779397(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position28487664
GeneCLN3
is asnp
is mentioned by
dbSNPrs587779397
ebirs587779397
HLIrs587779397
Exacrs587779397
Varsomers587779397
Maprs587779397
PheGenIrs587779397
hapmaprs587779397
1000 genomesrs587779397
hgdprs587779397
ensemblrs587779397
gopubmedrs587779397
geneviewrs587779397
scholarrs587779397
googlers587779397
pharmgkbrs587779397
gwascentralrs587779397
openSNPrs587779397
23andMers587779397
23andMe allrs587779397
SNP Nexus

SNPshotrs587779397
SNPdbers587779397
MSV3drs587779397
GWAS Ctlgrs587779397
Max Magnitude0
ClinVar
Risk rs587779397(T;T)
Alt rs587779397(T;T)
Reference rs587779397(;)
Significance Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28498985_28498986insA
CLNSRC
CLNACC RCV000087084.1,