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rs786201028

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201028(A;A)
Make rs786201028(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position28486617
GeneCLN3, NPIPB8
is asnp
is mentioned by
dbSNPrs786201028
ebirs786201028
HLIrs786201028
Exacrs786201028
Varsomers786201028
Maprs786201028
PheGenIrs786201028
hapmaprs786201028
1000 genomesrs786201028
hgdprs786201028
ensemblrs786201028
gopubmedrs786201028
geneviewrs786201028
scholarrs786201028
googlers786201028
pharmgkbrs786201028
gwascentralrs786201028
openSNPrs786201028
23andMers786201028
23andMe allrs786201028
SNP Nexus

SNPshotrs786201028
SNPdbers786201028
MSV3drs786201028
GWAS Ctlgrs786201028
Max Magnitude0
ClinVar
Risk rs786201028(A;A)
Alt rs786201028(A;A)
Reference rs786201028(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Ceroid lipofuscinosis, neuronal, 3, protracted
Reversed 1
HGVS NC_000016.9:g.28497938C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162326.3,