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rs786205211

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205211(C;T)
Make rs786205211(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position76995076
GeneCLN5
is asnp
is mentioned by
dbSNPrs786205211
ebirs786205211
HLIrs786205211
Exacrs786205211
Varsomers786205211
Maprs786205211
PheGenIrs786205211
hapmaprs786205211
1000 genomesrs786205211
hgdprs786205211
ensemblrs786205211
gopubmedrs786205211
geneviewrs786205211
scholarrs786205211
googlers786205211
pharmgkbrs786205211
gwascentralrs786205211
openSNPrs786205211
23andMers786205211
23andMe allrs786205211
SNP Nexus

SNPshotrs786205211
SNPdbers786205211
MSV3drs786205211
GWAS Ctlgrs786205211
Max Magnitude0
ClinVar
Risk rs786205211(T;T)
Alt rs786205211(T;T)
Reference rs786205211(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77569211C>T
CLNSRC
CLNACC RCV000170441.1,