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rs796052860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796052860(-;AGCCGCG)
Make rs796052860(AGCCGCG;AGCCGCG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position49861775
GenePNKP
is asnp
is mentioned by
dbSNPrs796052860
dbSNP (classic)rs796052860
ClinGenrs796052860
ebirs796052860
HLIrs796052860
Exacrs796052860
Gnomadrs796052860
Varsomers796052860
LitVarrs796052860
Maprs796052860
PheGenIrs796052860
Biobankrs796052860
1000 genomesrs796052860
hgdprs796052860
ensemblrs796052860
geneviewrs796052860
scholarrs796052860
googlers796052860
pharmgkbrs796052860
gwascentralrs796052860
openSNPrs796052860
23andMers796052860
SNPshotrs796052860
SNPdbers796052860
MSV3drs796052860
GWAS Ctlgrs796052860
Max Magnitude0
ClinVar
Risk rs796052860(AGCCGCG;AGCCGCG)
Alt rs796052860(AGCCGCG;AGCCGCG)
Reference Rs796052860(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene PNKP
CLNDBN not provided
Reversed 1
HGVS NC_000019.9:g.50365033_50365039dupCGCGGCT
CLNSRC
CLNACC RCV000188470.1,