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rs80338903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338903(-;-)
Make rs80338903(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216247095
GeneUSH2A
is asnp
is mentioned by
dbSNPrs80338903
ebirs80338903
HLIrs80338903
Exacrs80338903
Varsomers80338903
Maprs80338903
PheGenIrs80338903
hapmaprs80338903
1000 genomesrs80338903
hgdprs80338903
ensemblrs80338903
gopubmedrs80338903
geneviewrs80338903
scholarrs80338903
googlers80338903
pharmgkbrs80338903
gwascentralrs80338903
openSNPrs80338903
23andMers80338903
23andMe allrs80338903
SNP Nexus

SNPshotrs80338903
SNPdbers80338903
MSV3drs80338903
GWAS Ctlgrs80338903
Max Magnitude0
ClinVar
Risk rs80338903(;)
Alt rs80338903(;)
Reference rs80338903(G;G)
Significance Pathogenic
Disease Usher syndrome Retinitis pigmentosa Retinitis pigmentosa 39 Retinal dystrophy
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A Retinitis pigmentosa Retinitis pigmentosa 39 Retinal dystrophy
Reversed 1
HGVS NC_000001.10:g.216420437delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002445.5, RCV000032524.2, RCV000191141.1, RCV000210326.1,


[PMID 10729113OA-icon.png] Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.


[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.


[PMID 11402] Urban freestanding specialty hospitals under pressure, face uncertain future.


[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.


[PMID 14970843] Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.


[PMID 15025721] Mutational spectrum in Usher syndrome type II.