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rs111033379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033379(C;T)
Make rs111033379(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215782873
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033379
ebirs111033379
HLIrs111033379
Exacrs111033379
Varsomers111033379
Maprs111033379
PheGenIrs111033379
hapmaprs111033379
1000 genomesrs111033379
hgdprs111033379
ensemblrs111033379
gopubmedrs111033379
geneviewrs111033379
scholarrs111033379
googlers111033379
pharmgkbrs111033379
gwascentralrs111033379
openSNPrs111033379
23andMers111033379
23andMe allrs111033379
SNP Nexus

SNPshotrs111033379
SNPdbers111033379
MSV3drs111033379
GWAS Ctlgrs111033379
Max Magnitude0
ClinVar
Risk rs111033379(A,T;A,T)
Alt rs111033379(A,T;A,T)
Reference rs111033379(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215956215G>A
CLNSRC ClinVar
CLNACC RCV000041669.2,