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rs111033364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033364(A;A)
Make rs111033364(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215728232
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033364
ebirs111033364
HLIrs111033364
Exacrs111033364
Varsomers111033364
Maprs111033364
PheGenIrs111033364
hapmaprs111033364
1000 genomesrs111033364
hgdprs111033364
ensemblrs111033364
gopubmedrs111033364
geneviewrs111033364
scholarrs111033364
googlers111033364
pharmgkbrs111033364
gwascentralrs111033364
openSNPrs111033364
23andMers111033364
23andMe allrs111033364
SNP Nexus

SNPshotrs111033364
SNPdbers111033364
MSV3drs111033364
GWAS Ctlgrs111033364
Max Magnitude0
OMIM608400
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033364(A;A)
Alt rs111033364(A;A)
Reference rs111033364(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215901574C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002451.5,


[PMID 15015129OA-icon.png] Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.


[PMID 16963483OA-icon.png] Development of a genotyping microarray for Usher syndrome.