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rs137852883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852883(C;C)
Make rs137852883(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771142
GeneCLN8
is asnp
is mentioned by
dbSNPrs137852883
ebirs137852883
HLIrs137852883
Exacrs137852883
Varsomers137852883
Maprs137852883
PheGenIrs137852883
hapmaprs137852883
1000 genomesrs137852883
hgdprs137852883
ensemblrs137852883
gopubmedrs137852883
geneviewrs137852883
scholarrs137852883
googlers137852883
pharmgkbrs137852883
gwascentralrs137852883
openSNPrs137852883
23andMers137852883
23andMe allrs137852883
SNP Nexus

SNPshotrs137852883
SNPdbers137852883
MSV3drs137852883
GWAS Ctlgrs137852883
Max Magnitude0
OMIM607837
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852883(A,C,T;A,C,T)
Alt rs137852883(A,C,T;A,C,T)
Reference rs137852883(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719308G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002940.2,