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rs137852969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852969(A;A)
Make rs137852969(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position3889633
GenePANK2
is asnp
is mentioned by
dbSNPrs137852969
ebirs137852969
HLIrs137852969
Exacrs137852969
Varsomers137852969
Maprs137852969
PheGenIrs137852969
hapmaprs137852969
1000 genomesrs137852969
hgdprs137852969
ensemblrs137852969
gopubmedrs137852969
geneviewrs137852969
scholarrs137852969
googlers137852969
pharmgkbrs137852969
gwascentralrs137852969
openSNPrs137852969
23andMers137852969
23andMe allrs137852969
SNP Nexus

SNPshotrs137852969
SNPdbers137852969
MSV3drs137852969
GWAS Ctlgrs137852969
Max Magnitude0
OMIM606157
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852969(A;A)
Alt rs137852969(A;A)
Reference rs137852969(C;C)
Significance Pathogenic
Disease Pigmentary pallidal degeneration
Variation info
Gene PANK2
CLNDBN Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3870280C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004823.2,