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rs137852960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852960(C;G)
Make rs137852960(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3889670
GeneLOC107985395, PANK2
is asnp
is mentioned by
dbSNPrs137852960
dbSNP (classic)rs137852960
ClinGenrs137852960
ebirs137852960
HLIrs137852960
Exacrs137852960
Gnomadrs137852960
Varsomers137852960
LitVarrs137852960
Maprs137852960
PheGenIrs137852960
Biobankrs137852960
1000 genomesrs137852960
hgdprs137852960
ensemblrs137852960
geneviewrs137852960
scholarrs137852960
googlers137852960
pharmgkbrs137852960
gwascentralrs137852960
openSNPrs137852960
23andMers137852960
SNPshotrs137852960
SNPdbers137852960
MSV3drs137852960
GWAS Ctlgrs137852960
Max Magnitude0
OMIM606157
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852960(G;G)
Alt rs137852960(G;G)
Reference Rs137852960(C;C)
Significance Pathogenic
Disease Pigmentary pallidal degeneration
Variation info
Gene PANK2
CLNDBN Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3870317C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004809.3,