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rs730882146

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882146(A;A)
Make rs730882146(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position77000680
GeneCLN5
is asnp
is mentioned by
dbSNPrs730882146
ebirs730882146
HLIrs730882146
Exacrs730882146
Varsomers730882146
Maprs730882146
PheGenIrs730882146
hapmaprs730882146
1000 genomesrs730882146
hgdprs730882146
ensemblrs730882146
gopubmedrs730882146
geneviewrs730882146
scholarrs730882146
googlers730882146
pharmgkbrs730882146
gwascentralrs730882146
openSNPrs730882146
23andMers730882146
23andMe allrs730882146
SNP Nexus

SNPshotrs730882146
SNPdbers730882146
MSV3drs730882146
GWAS Ctlgrs730882146
Max Magnitude0
ClinVar
Risk rs730882146(A;A)
Alt rs730882146(A;A)
Reference rs730882146(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.77574815G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000161918.3,