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rs863223343

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863223343(C;C)
Make rs863223343(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3912514
GenePANK2
is asnp
is mentioned by
dbSNPrs863223343
ebirs863223343
HLIrs863223343
Exacrs863223343
Varsomers863223343
Maprs863223343
PheGenIrs863223343
hapmaprs863223343
1000 genomesrs863223343
hgdprs863223343
ensemblrs863223343
gopubmedrs863223343
geneviewrs863223343
scholarrs863223343
googlers863223343
pharmgkbrs863223343
gwascentralrs863223343
openSNPrs863223343
23andMers863223343
23andMe allrs863223343
SNP Nexus

SNPshotrs863223343
SNPdbers863223343
MSV3drs863223343
GWAS Ctlgrs863223343
Max Magnitude0
ClinVar
Risk rs863223343(C;C)
Alt rs863223343(C;C)
Reference rs863223343(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene PANK2
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000020.10:g.3893161T>C
CLNSRC
CLNACC RCV000201489.1,