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rs137852961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852961(C;T)
Make rs137852961(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3908087
GenePANK2
is asnp
is mentioned by
dbSNPrs137852961
dbSNP (classic)rs137852961
ClinGenrs137852961
ebirs137852961
HLIrs137852961
Exacrs137852961
Gnomadrs137852961
Varsomers137852961
LitVarrs137852961
Maprs137852961
PheGenIrs137852961
Biobankrs137852961
1000 genomesrs137852961
hgdprs137852961
ensemblrs137852961
geneviewrs137852961
scholarrs137852961
googlers137852961
pharmgkbrs137852961
gwascentralrs137852961
openSNPrs137852961
23andMers137852961
SNPshotrs137852961
SNPdbers137852961
MSV3drs137852961
GWAS Ctlgrs137852961
Max Magnitude0
OMIM606157
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852961(T;T)
Alt rs137852961(T;T)
Reference Rs137852961(C;C)
Significance Pathogenic
Disease Pigmentary pallidal degeneration
Variation info
Gene PANK2
CLNDBN Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3888734C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004810.2,