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rs750550558

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs750550558(-;TT)
Make rs750550558(TT;TT)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position49862180
GenePNKP
is asnp
is mentioned by
dbSNPrs750550558
ClinGenrs750550558
ebirs750550558
HLIrs750550558
Exacrs750550558
Varsomers750550558
Maprs750550558
PheGenIrs750550558
hapmaprs750550558
1000 genomesrs750550558
hgdprs750550558
ensemblrs750550558
gopubmedrs750550558
geneviewrs750550558
scholarrs750550558
googlers750550558
pharmgkbrs750550558
gwascentralrs750550558
openSNPrs750550558
23andMers750550558
23andMe allrs750550558
SNP Nexus

SNPshotrs750550558
SNPdbers750550558
MSV3drs750550558
GWAS Ctlgrs750550558
Max Magnitude0
ClinVar
Risk rs750550558(TT;TT)
Alt rs750550558(TT;TT)
Reference Rs750550558(;)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene PNKP
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.50365438_50365439dupTT
CLNSRC
CLNACC RCV000188469.1,