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rs121908292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908292(G;T)
Make rs121908292(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000799
GeneCLN5
is asnp
is mentioned by
dbSNPrs121908292
ebirs121908292
HLIrs121908292
Exacrs121908292
Varsomers121908292
Maprs121908292
PheGenIrs121908292
hapmaprs121908292
1000 genomesrs121908292
hgdprs121908292
ensemblrs121908292
gopubmedrs121908292
geneviewrs121908292
scholarrs121908292
googlers121908292
pharmgkbrs121908292
gwascentralrs121908292
openSNPrs121908292
23andMers121908292
23andMe allrs121908292
SNP Nexus

SNPshotrs121908292
SNPdbers121908292
MSV3drs121908292
GWAS Ctlgrs121908292
Max Magnitude0
OMIM608102
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908292(T;T)
Alt rs121908292(T;T)
Reference rs121908292(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574934G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002677.3,