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rs587777224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777224(-;-)
Make rs587777224(-;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position180984691
GeneDNAJC19
is asnp
is mentioned by
dbSNPrs587777224
ebirs587777224
HLIrs587777224
Exacrs587777224
Varsomers587777224
Maprs587777224
PheGenIrs587777224
hapmaprs587777224
1000 genomesrs587777224
hgdprs587777224
ensemblrs587777224
gopubmedrs587777224
geneviewrs587777224
scholarrs587777224
googlers587777224
pharmgkbrs587777224
gwascentralrs587777224
openSNPrs587777224
23andMers587777224
23andMe allrs587777224
SNP Nexus

SNPshotrs587777224
SNPdbers587777224
MSV3drs587777224
GWAS Ctlgrs587777224
Max Magnitude0
ClinVar
Risk rs587777224(;)
Alt rs587777224(;)
Reference rs587777224(T;T)
Significance Pathogenic
Disease 3-methylglutaconic aciduria type V
Variation info
Gene DNAJC19
CLNDBN 3-methylglutaconic aciduria type V
Reversed 0
HGVS NC_000003.11:g.180702479delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000106304.2,