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rs267607018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607018(C;C)
Make rs267607018(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position10611220
GeneRP1L1
is asnp
is mentioned by
dbSNPrs267607018
ebirs267607018
HLIrs267607018
Exacrs267607018
Varsomers267607018
Maprs267607018
PheGenIrs267607018
hapmaprs267607018
1000 genomesrs267607018
hgdprs267607018
ensemblrs267607018
gopubmedrs267607018
geneviewrs267607018
scholarrs267607018
googlers267607018
pharmgkbrs267607018
gwascentralrs267607018
openSNPrs267607018
23andMers267607018
23andMe allrs267607018
SNP Nexus

SNPshotrs267607018
SNPdbers267607018
MSV3drs267607018
GWAS Ctlgrs267607018
Max Magnitude0
ClinVar
Risk rs267607018(C;C)
Alt rs267607018(C;C)
Reference rs267607018(T;T)
Significance Pathogenic
Disease Occult macular dystrophy
Variation info
Gene RP1L1
CLNDBN Occult macular dystrophy
Reversed 1
HGVS NC_000008.10:g.10468730A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002278.3,