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rs587776892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
Make rs587776892(-;-)
Make rs587776892(-;CTC)
Make rs587776892(CTC;CTC)
ReferenceGRCh38 38.1/142
Chromosome20
Position63930875
GeneDNAJC5
is asnp
is mentioned by
dbSNPrs587776892
ebirs587776892
HLIrs587776892
Exacrs587776892
Varsomers587776892
Maprs587776892
PheGenIrs587776892
hapmaprs587776892
1000 genomesrs587776892
hgdprs587776892
ensemblrs587776892
gopubmedrs587776892
geneviewrs587776892
scholarrs587776892
googlers587776892
pharmgkbrs587776892
gwascentralrs587776892
openSNPrs587776892
23andMers587776892
23andMe allrs587776892
SNP Nexus

SNPshotrs587776892
SNPdbers587776892
MSV3drs587776892
GWAS Ctlgrs587776892
Max Magnitude0
ClinVar
Risk rs587776892(;)
Alt rs587776892(;)
Reference rs587776892(CCT;CCT)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 4B autosomal dominant
Variation info
Gene DNAJC5
CLNDBN Ceroid lipofuscinosis neuronal 4B autosomal dominant
Reversed 0
HGVS NC_000020.10:g.62562228_62562230delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023878.5,