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rs863223344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863223344(A;T)
Make rs863223344(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position29073550
GeneC2orf71
is asnp
is mentioned by
dbSNPrs863223344
dbSNP (classic)rs863223344
ClinGenrs863223344
ebirs863223344
HLIrs863223344
Exacrs863223344
Gnomadrs863223344
Varsomers863223344
LitVarrs863223344
Maprs863223344
PheGenIrs863223344
Biobankrs863223344
1000 genomesrs863223344
hgdprs863223344
ensemblrs863223344
geneviewrs863223344
scholarrs863223344
googlers863223344
pharmgkbrs863223344
gwascentralrs863223344
openSNPrs863223344
23andMers863223344
SNPshotrs863223344
SNPdbers863223344
MSV3drs863223344
GWAS Ctlgrs863223344
Max Magnitude0
ClinVar
Risk rs863223344(T;T)
Alt rs863223344(T;T)
Reference Rs863223344(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene C2orf71
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000002.11:g.29296416T>A
CLNSRC
CLNACC RCV000201436.1,