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rs267606690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606690(A;T)
Make rs267606690(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position29073661
GeneC2orf71
is asnp
is mentioned by
dbSNPrs267606690
dbSNP (classic)rs267606690
ClinGenrs267606690
ebirs267606690
HLIrs267606690
Exacrs267606690
Gnomadrs267606690
Varsomers267606690
LitVarrs267606690
Maprs267606690
PheGenIrs267606690
Biobankrs267606690
1000 genomesrs267606690
hgdprs267606690
ensemblrs267606690
geneviewrs267606690
scholarrs267606690
googlers267606690
pharmgkbrs267606690
gwascentralrs267606690
openSNPrs267606690
23andMers267606690
SNPshotrs267606690
SNPdbers267606690
MSV3drs267606690
GWAS Ctlgrs267606690
Max Magnitude0
ClinVar
Risk rs267606690(T;T)
Alt rs267606690(T;T)
Reference Rs267606690(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 54
Variation info
Gene C2orf71
CLNDBN Retinitis pigmentosa 54
Reversed 1
HGVS NC_000002.11:g.29296527T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000122.3,