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rs200075782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200075782(A;A)
Make rs200075782(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position38169318
GenePLA2G6
is asnp
is mentioned by
dbSNPrs200075782
ebirs200075782
HLIrs200075782
Exacrs200075782
Varsomers200075782
Maprs200075782
PheGenIrs200075782
hapmaprs200075782
1000 genomesrs200075782
hgdprs200075782
ensemblrs200075782
gopubmedrs200075782
geneviewrs200075782
scholarrs200075782
googlers200075782
pharmgkbrs200075782
gwascentralrs200075782
openSNPrs200075782
23andMers200075782
23andMe allrs200075782
SNP Nexus

SNPshotrs200075782
SNPdbers200075782
MSV3drs200075782
GWAS Ctlgrs200075782
Max Magnitude0
ClinVar
Risk rs200075782(A;A)
Alt rs200075782(A;A)
Reference rs200075782(G;G)
Significance Pathogenic
Disease Infantile neuroaxonal dystrophy Iron accumulation in brain
Variation info
Gene PLA2G6
CLNDBN Infantile neuroaxonal dystrophy Iron accumulation in brain
Reversed 0
HGVS NC_000022.10:g.38565325G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023318.4, RCV000147282.1,