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rs137852967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852967(C;T)
Make rs137852967(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3918717
GenePANK2
is asnp
is mentioned by
dbSNPrs137852967
ebirs137852967
HLIrs137852967
Exacrs137852967
Varsomers137852967
Maprs137852967
PheGenIrs137852967
hapmaprs137852967
1000 genomesrs137852967
hgdprs137852967
ensemblrs137852967
gopubmedrs137852967
geneviewrs137852967
scholarrs137852967
googlers137852967
pharmgkbrs137852967
gwascentralrs137852967
openSNPrs137852967
23andMers137852967
23andMe allrs137852967
SNP Nexus

SNPshotrs137852967
SNPdbers137852967
MSV3drs137852967
GWAS Ctlgrs137852967
Max Magnitude0
OMIM606157
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852967(T;T)
Alt rs137852967(T;T)
Reference rs137852967(C;C)
Significance Pathogenic
Disease Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1 Hypoprebetalipoproteinemia
Variation info
Gene MIR103B2 PANK2
CLNDBN Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1, atypical Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3899364C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004816.2, RCV000004817.2, RCV000132733.1,