Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784353

From SNPedia

Orientationminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs587784353(-;-)
Make rs587784353(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position38112211
GeneBAIAP2L2, PLA2G6
is asnp
is mentioned by
dbSNPrs587784353
ebirs587784353
HLIrs587784353
Exacrs587784353
Varsomers587784353
Maprs587784353
PheGenIrs587784353
hapmaprs587784353
1000 genomesrs587784353
hgdprs587784353
ensemblrs587784353
gopubmedrs587784353
geneviewrs587784353
scholarrs587784353
googlers587784353
pharmgkbrs587784353
gwascentralrs587784353
openSNPrs587784353
23andMers587784353
23andMe allrs587784353
SNP Nexus

SNPshotrs587784353
SNPdbers587784353
MSV3drs587784353
GWAS Ctlgrs587784353
Max Magnitude0
ClinVar
Risk rs587784353(;)
Alt rs587784353(;)
Reference rs587784353(TG;TG)
Significance Pathogenic
Disease Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2b Iron accumulation in brain
Variation info
Gene BAIAP2L2 PLA2G6
CLNDBN Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2b Iron accumulation in brain
Reversed 1
HGVS NC_000022.10:g.38508218_38508219delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006578.4, RCV000006579.4, RCV000147322.1,