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rs267607182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607182(C;C)
Make rs267607182(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27378156
GeneZNF513
is asnp
is mentioned by
dbSNPrs267607182
ebirs267607182
HLIrs267607182
Exacrs267607182
Varsomers267607182
Maprs267607182
PheGenIrs267607182
hapmaprs267607182
1000 genomesrs267607182
hgdprs267607182
ensemblrs267607182
gopubmedrs267607182
geneviewrs267607182
scholarrs267607182
googlers267607182
pharmgkbrs267607182
gwascentralrs267607182
openSNPrs267607182
23andMers267607182
23andMe allrs267607182
SNP Nexus

SNPshotrs267607182
SNPdbers267607182
MSV3drs267607182
GWAS Ctlgrs267607182
Max Magnitude0
ClinVar
Risk rs267607182(C;C)
Alt rs267607182(C;C)
Reference rs267607182(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 58
Variation info
Gene ZNF513
CLNDBN Retinitis pigmentosa 58
Reversed 1
HGVS NC_000002.11:g.27601023A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000045.2,