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rs111033414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033414(A;A)
Make rs111033414(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215759844
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033414
dbSNP (classic)rs111033414
ClinGenrs111033414
ebirs111033414
HLIrs111033414
Exacrs111033414
Gnomadrs111033414
Varsomers111033414
LitVarrs111033414
Maprs111033414
PheGenIrs111033414
Biobankrs111033414
1000 genomesrs111033414
hgdprs111033414
ensemblrs111033414
geneviewrs111033414
scholarrs111033414
googlers111033414
pharmgkbrs111033414
gwascentralrs111033414
openSNPrs111033414
23andMers111033414
SNPshotrs111033414
SNPdbers111033414
MSV3drs111033414
GWAS Ctlgrs111033414
Max Magnitude0
ClinVar
Risk rs111033414(A;A)
Alt rs111033414(A;A)
Reference Rs111033414(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215933186C>T
CLNSRC ClinVar
CLNACC RCV000041686.2,