Have questions? Visit https://www.reddit.com/r/SNPedia

rs1506

From SNPedia

Orientationminus
Stabilizedminus
Make rs1506(A;A)
Make rs1506(A;T)
Make rs1506(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31788750
GenePAX6
is asnp
is mentioned by
dbSNPrs1506
ClinGenrs1506
ebirs1506
HLIrs1506
Exacrs1506
Varsomers1506
Maprs1506
PheGenIrs1506
hapmaprs1506
1000 genomesrs1506
hgdprs1506
ensemblrs1506
gopubmedrs1506
geneviewrs1506
scholarrs1506
googlers1506
pharmgkbrs1506
gwascentralrs1506
openSNPrs1506
23andMers1506
23andMe allrs1506
SNP Nexus

SNPshotrs1506
SNPdbers1506
MSV3drs1506
GWAS Ctlgrs1506
GMAF0.3173
Max Magnitude
? (A;A) (A;T) (T;T) 28
[PMID 21589860OA-icon.png] PAX6 haplotypes are associated with high myopia in Han chinese

[PMID 15307048OA-icon.png] A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.


[PMID 19172991OA-icon.png] Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).


ClinVar
Risk rs1506(T;T)
Alt rs1506(T;T)
Reference rs1506(A;A)
Significance Non-pathogenic
Disease Anophthalmia Aniridia Foveal hypoplasia and presenile cataract syndrome Peters anomaly Keratitis Wilms tumor
Variation info
Gene PAX6
CLNDBN Anophthalmia Aniridia Foveal hypoplasia and presenile cataract syndrome Peters anomaly Aniridia, Cerebellar Ataxia, And Intellectual Disability Keratitis, hereditary Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Reversed 1
HGVS NC_000011.9:g.31810298T>A
CLNSRC
CLNACC RCV000280988.1, RCV000286998.1, RCV000298746.1, RCV000338402.1, RCV000339784.1, RCV000398435.1, RCV000399005.1,