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rs137852959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852959(A;A)
Make rs137852959(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3918695
GenePANK2
is asnp
is mentioned by
dbSNPrs137852959
ebirs137852959
HLIrs137852959
Exacrs137852959
Varsomers137852959
Maprs137852959
PheGenIrs137852959
hapmaprs137852959
1000 genomesrs137852959
hgdprs137852959
ensemblrs137852959
gopubmedrs137852959
geneviewrs137852959
scholarrs137852959
googlers137852959
pharmgkbrs137852959
gwascentralrs137852959
openSNPrs137852959
23andMers137852959
23andMe allrs137852959
SNP Nexus

SNPshotrs137852959
SNPdbers137852959
MSV3drs137852959
GWAS Ctlgrs137852959
Max Magnitude0
OMIM606157
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852959(A;A)
Alt rs137852959(A;A)
Reference rs137852959(G;G)
Significance Pathogenic
Disease Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1 Hypoprebetalipoproteinemia Inborn genetic diseases not provided
Variation info
Gene MIR103B2 PANK2
CLNDBN Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1, atypical Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Inborn genetic diseases not provided
Reversed 0
HGVS NC_000020.10:g.3899342G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004807.3, RCV000004808.3, RCV000132732.1, RCV000190815.1, RCV000224470.1,