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rs387907043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907043(G;G)
Make rs387907043(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63930873
GeneDNAJC5
is asnp
is mentioned by
dbSNPrs387907043
ebirs387907043
HLIrs387907043
Exacrs387907043
Varsomers387907043
Maprs387907043
PheGenIrs387907043
hapmaprs387907043
1000 genomesrs387907043
hgdprs387907043
ensemblrs387907043
gopubmedrs387907043
geneviewrs387907043
scholarrs387907043
googlers387907043
pharmgkbrs387907043
gwascentralrs387907043
openSNPrs387907043
23andMers387907043
23andMe allrs387907043
SNP Nexus

SNPshotrs387907043
SNPdbers387907043
MSV3drs387907043
GWAS Ctlgrs387907043
Max Magnitude0
ClinVar
Risk rs387907043(G;G)
Alt rs387907043(G;G)
Reference rs387907043(T;T)
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.62562226T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023879.4,