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rs111033382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033382(G;T)
Make rs111033382(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215759659
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033382
dbSNP (old)rs111033382
ClinGenrs111033382
ebirs111033382
HLIrs111033382
Exacrs111033382
Gnomadrs111033382
Varsomers111033382
Maprs111033382
PheGenIrs111033382
Biobankrs111033382
1000 genomesrs111033382
hgdprs111033382
ensemblrs111033382
gopubmedrs111033382
geneviewrs111033382
scholarrs111033382
googlers111033382
pharmgkbrs111033382
gwascentralrs111033382
openSNPrs111033382
23andMers111033382
23andMe allrs111033382
SNP Nexus

SNPshotrs111033382
SNPdbers111033382
MSV3drs111033382
GWAS Ctlgrs111033382
Max Magnitude0
ClinVar
Risk rs111033382(T;T)
Alt rs111033382(T;T)
Reference Rs111033382(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215933001C>A
CLNSRC ClinVar
CLNACC RCV000041690.2,