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rs879253712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGTCTTT;TGTCTTT) 0 common in clinvar
Make rs879253712(-;-)
Make rs879253712(-;TGTCTTT)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3908224
GenePANK2
is asnp
is mentioned by
dbSNPrs879253712
dbSNP (classic)rs879253712
ClinGenrs879253712
ebirs879253712
HLIrs879253712
Exacrs879253712
Gnomadrs879253712
Varsomers879253712
LitVarrs879253712
Maprs879253712
PheGenIrs879253712
Biobankrs879253712
1000 genomesrs879253712
hgdprs879253712
ensemblrs879253712
geneviewrs879253712
scholarrs879253712
googlers879253712
pharmgkbrs879253712
gwascentralrs879253712
openSNPrs879253712
23andMers879253712
SNPshotrs879253712
SNPdbers879253712
MSV3drs879253712
GWAS Ctlgrs879253712
Max Magnitude0
ClinVar
Risk rs879253712(-;-)
Alt rs879253712(-;-)
Reference Rs879253712(TGTCTTT;TGTCTTT)
Significance Pathogenic
Disease Pigmentary pallidal degeneration
Variation info
Gene PANK2
CLNDBN Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3888871_3888877delTGTCTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004806.3,