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rs104894385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894385(A;A)
Make rs104894385(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76992176
GeneCLN5
is asnp
is mentioned by
dbSNPrs104894385
ebirs104894385
HLIrs104894385
Exacrs104894385
Varsomers104894385
Maprs104894385
PheGenIrs104894385
hapmaprs104894385
1000 genomesrs104894385
hgdprs104894385
ensemblrs104894385
gopubmedrs104894385
geneviewrs104894385
scholarrs104894385
googlers104894385
pharmgkbrs104894385
gwascentralrs104894385
openSNPrs104894385
23andMers104894385
23andMe allrs104894385
SNP Nexus

SNPshotrs104894385
SNPdbers104894385
MSV3drs104894385
GWAS Ctlgrs104894385
Max Magnitude0
OMIM608102
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894385(A,T;A,T)
Alt rs104894385(A,T;A,T)
Reference rs104894385(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.77566311G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002674.4,