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rs606231423

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231423(C;T)
Make rs606231423(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position67692588
GeneRDH11
is asnp
is mentioned by
dbSNPrs606231423
ebirs606231423
HLIrs606231423
Exacrs606231423
Varsomers606231423
Maprs606231423
PheGenIrs606231423
hapmaprs606231423
1000 genomesrs606231423
hgdprs606231423
ensemblrs606231423
gopubmedrs606231423
geneviewrs606231423
scholarrs606231423
googlers606231423
pharmgkbrs606231423
gwascentralrs606231423
openSNPrs606231423
23andMers606231423
23andMe allrs606231423
SNP Nexus

SNPshotrs606231423
SNPdbers606231423
MSV3drs606231423
GWAS Ctlgrs606231423
Max Magnitude0
ClinVar
Risk rs606231423(T;T)
Alt rs606231423(T;T)
Reference rs606231423(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.68159305G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148296.4,