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rs606231424

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231424(C;T)
Make rs606231424(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position67692465
GeneRDH11
is asnp
is mentioned by
dbSNPrs606231424
ebirs606231424
HLIrs606231424
Exacrs606231424
Varsomers606231424
Maprs606231424
PheGenIrs606231424
hapmaprs606231424
1000 genomesrs606231424
hgdprs606231424
ensemblrs606231424
gopubmedrs606231424
geneviewrs606231424
scholarrs606231424
googlers606231424
pharmgkbrs606231424
gwascentralrs606231424
openSNPrs606231424
23andMers606231424
23andMe allrs606231424
SNP Nexus

SNPshotrs606231424
SNPdbers606231424
MSV3drs606231424
GWAS Ctlgrs606231424
Max Magnitude0
ClinVar
Risk rs606231424(T;T)
Alt rs606231424(T;T)
Reference rs606231424(C;C)
Significance Pathogenic
Disease Retinal dystrophy
Variation info
Gene RDH11
CLNDBN Retinal dystrophy, juvenile cataracts, and short stature syndrome
Reversed 1
HGVS NC_000014.8:g.68159182G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148297.4,