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rs148862100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs148862100(A;G)
Make rs148862100(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000866
GeneCLN5
is asnp
is mentioned by
dbSNPrs148862100
ebirs148862100
HLIrs148862100
Exacrs148862100
Varsomers148862100
Maprs148862100
PheGenIrs148862100
hapmaprs148862100
1000 genomesrs148862100
hgdprs148862100
ensemblrs148862100
gopubmedrs148862100
geneviewrs148862100
scholarrs148862100
googlers148862100
pharmgkbrs148862100
gwascentralrs148862100
openSNPrs148862100
23andMers148862100
23andMe allrs148862100
SNP Nexus

SNPshotrs148862100
SNPdbers148862100
MSV3drs148862100
GWAS Ctlgrs148862100
Max Magnitude0
ClinVar
Risk rs148862100(G;G)
Alt rs148862100(G;G)
Reference rs148862100(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77575001A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002679.3,