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rs121908680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908680(G;G)
Make rs121908680(G;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position38112212
GeneBAIAP2L2, PLA2G6
is asnp
is mentioned by
dbSNPrs121908680
ebirs121908680
HLIrs121908680
Exacrs121908680
Varsomers121908680
Maprs121908680
PheGenIrs121908680
hapmaprs121908680
1000 genomesrs121908680
hgdprs121908680
ensemblrs121908680
gopubmedrs121908680
geneviewrs121908680
scholarrs121908680
googlers121908680
pharmgkbrs121908680
gwascentralrs121908680
openSNPrs121908680
23andMers121908680
23andMe allrs121908680
SNP Nexus

SNPshotrs121908680
SNPdbers121908680
MSV3drs121908680
GWAS Ctlgrs121908680
Max Magnitude0
OMIM603604
Desc
Variant0001
Relatedalso
OMIM603604
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908680(G;G)
Alt rs121908680(G;G)
Reference rs121908680(T;T)
Significance Pathogenic
Disease Infantile neuroaxonal dystrophy Iron accumulation in brain
Variation info
Gene BAIAP2L2 PLA2G6
CLNDBN Infantile neuroaxonal dystrophy Iron accumulation in brain
Reversed 1
HGVS NC_000022.10:g.38508219A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006572.3, RCV000147321.1,