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

rs111033334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033334(C;T)
Make rs111033334(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216247185
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033334
ebirs111033334
HLIrs111033334
Exacrs111033334
Varsomers111033334
Maprs111033334
PheGenIrs111033334
hapmaprs111033334
1000 genomesrs111033334
hgdprs111033334
ensemblrs111033334
gopubmedrs111033334
geneviewrs111033334
scholarrs111033334
googlers111033334
pharmgkbrs111033334
gwascentralrs111033334
openSNPrs111033334
23andMers111033334
23andMe allrs111033334
SNP Nexus

SNPshotrs111033334
SNPdbers111033334
MSV3drs111033334
GWAS Ctlgrs111033334
Max Magnitude0
OMIM608400
Desc
Variant0011
Relatedalso
ClinVar
Risk rs111033334(T;T)
Alt rs111033334(T;T)
Reference rs111033334(C;C)
Significance Pathogenic
Disease Usher syndrome Retinitis pigmentosa 39
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A Retinitis pigmentosa 39
Reversed 1
HGVS NC_000001.10:g.216420527G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002456.5, RCV000002457.4,


[PMID 17296898] Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

[PMID 18452394] Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.