Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894060(C;T)
Make rs104894060(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780316
GeneCLN8
is asnp
is mentioned by
dbSNPrs104894060
dbSNP (classic)rs104894060
ClinGenrs104894060
ebirs104894060
HLIrs104894060
Exacrs104894060
Gnomadrs104894060
Varsomers104894060
LitVarrs104894060
Maprs104894060
PheGenIrs104894060
Biobankrs104894060
1000 genomesrs104894060
hgdprs104894060
ensemblrs104894060
geneviewrs104894060
scholarrs104894060
googlers104894060
pharmgkbrs104894060
gwascentralrs104894060
openSNPrs104894060
23andMers104894060
SNPshotrs104894060
SNPdbers104894060
MSV3drs104894060
GWAS Ctlgrs104894060
Max Magnitude0
OMIM607837
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894060(T;T)
Alt rs104894060(T;T)
Reference Rs104894060(C;C)
Significance Other
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728482C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002938.2,