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rs149308952

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs149308952(A;G)
Make rs149308952(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position1771524
GeneCLN8
is asnp
is mentioned by
dbSNPrs149308952
ebirs149308952
HLIrs149308952
Exacrs149308952
Varsomers149308952
Maprs149308952
PheGenIrs149308952
hapmaprs149308952
1000 genomesrs149308952
hgdprs149308952
ensemblrs149308952
gopubmedrs149308952
geneviewrs149308952
scholarrs149308952
googlers149308952
pharmgkbrs149308952
gwascentralrs149308952
openSNPrs149308952
23andMers149308952
23andMe allrs149308952
SNP Nexus

SNPshotrs149308952
SNPdbers149308952
MSV3drs149308952
GWAS Ctlgrs149308952
Max Magnitude0
ClinVar
Risk rs149308952(G;G)
Alt rs149308952(G;G)
Reference rs149308952(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719690A>G
CLNSRC
CLNACC RCV000192707.1,