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rs137852962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852962(C;T)
Make rs137852962(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3908153
GenePANK2
is asnp
is mentioned by
dbSNPrs137852962
ebirs137852962
HLIrs137852962
Exacrs137852962
Varsomers137852962
Maprs137852962
PheGenIrs137852962
hapmaprs137852962
1000 genomesrs137852962
hgdprs137852962
ensemblrs137852962
gopubmedrs137852962
geneviewrs137852962
scholarrs137852962
googlers137852962
pharmgkbrs137852962
gwascentralrs137852962
openSNPrs137852962
23andMers137852962
23andMe allrs137852962
SNP Nexus

SNPshotrs137852962
SNPdbers137852962
MSV3drs137852962
GWAS Ctlgrs137852962
Max Magnitude0
OMIM606157
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852962(T;T)
Alt rs137852962(T;T)
Reference rs137852962(C;C)
Significance Pathogenic
Disease Pigmentary pallidal degeneration
Variation info
Gene PANK2
CLNDBN Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3888800C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004811.2,