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

rs267606737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606737(A;A)
Make rs267606737(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486427
GeneCLN3
is asnp
is mentioned by
dbSNPrs267606737
ebirs267606737
HLIrs267606737
Exacrs267606737
Varsomers267606737
Maprs267606737
PheGenIrs267606737
hapmaprs267606737
1000 genomesrs267606737
hgdprs267606737
ensemblrs267606737
gopubmedrs267606737
geneviewrs267606737
scholarrs267606737
googlers267606737
pharmgkbrs267606737
gwascentralrs267606737
openSNPrs267606737
23andMers267606737
23andMe allrs267606737
SNP Nexus

SNPshotrs267606737
SNPdbers267606737
MSV3drs267606737
GWAS Ctlgrs267606737
Max Magnitude0
ClinVar
Risk rs267606737(A;A)
Alt rs267606737(A;A)
Reference rs267606737(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Ceroid lipofuscinosis, neuronal, 3, protracted Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497748G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003736.3, RCV000169443.1,