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rs137852963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852963(A;A)
Make rs137852963(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3912634
GenePANK2
is asnp
is mentioned by
dbSNPrs137852963
dbSNP (classic)rs137852963
ClinGenrs137852963
ebirs137852963
HLIrs137852963
Exacrs137852963
Gnomadrs137852963
Varsomers137852963
LitVarrs137852963
Maprs137852963
PheGenIrs137852963
Biobankrs137852963
1000 genomesrs137852963
hgdprs137852963
ensemblrs137852963
geneviewrs137852963
scholarrs137852963
googlers137852963
pharmgkbrs137852963
gwascentralrs137852963
openSNPrs137852963
23andMers137852963
SNPshotrs137852963
SNPdbers137852963
MSV3drs137852963
GWAS Ctlgrs137852963
Max Magnitude0
OMIM606157
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852963(A;A)
Alt rs137852963(A;A)
Reference Rs137852963(G;G)
Significance Pathogenic
Disease Pigmentary pallidal degeneration
Variation info
Gene PANK2
CLNDBN Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3893281G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004812.2,