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rs111033417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033417(A;A)
Make rs111033417(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215674598
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033417
ebirs111033417
HLIrs111033417
Exacrs111033417
Varsomers111033417
Maprs111033417
PheGenIrs111033417
hapmaprs111033417
1000 genomesrs111033417
hgdprs111033417
ensemblrs111033417
gopubmedrs111033417
geneviewrs111033417
scholarrs111033417
googlers111033417
pharmgkbrs111033417
gwascentralrs111033417
openSNPrs111033417
23andMers111033417
23andMe allrs111033417
SNP Nexus

SNPshotrs111033417
SNPdbers111033417
MSV3drs111033417
GWAS Ctlgrs111033417
Max Magnitude0
ClinVar
Risk rs111033417(A;A)
Alt rs111033417(A;A)
Reference rs111033417(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215847940C>T
CLNSRC ClinVar
CLNACC RCV000041739.2,