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rs111033526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033526(C;C)
Make rs111033526(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215680148
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033526
ebirs111033526
HLIrs111033526
Exacrs111033526
Varsomers111033526
Maprs111033526
PheGenIrs111033526
hapmaprs111033526
1000 genomesrs111033526
hgdprs111033526
ensemblrs111033526
gopubmedrs111033526
geneviewrs111033526
scholarrs111033526
googlers111033526
pharmgkbrs111033526
gwascentralrs111033526
openSNPrs111033526
23andMers111033526
23andMe allrs111033526
SNP Nexus

SNPshotrs111033526
SNPdbers111033526
MSV3drs111033526
GWAS Ctlgrs111033526
Max Magnitude0
ClinVar
Risk rs111033526(C;C)
Alt rs111033526(C;C)
Reference rs111033526(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215853490C>G
CLNSRC ClinVar
CLNACC RCV000041716.2,