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rs483353056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483353056(A;A)
Make rs483353056(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position215900194
GeneUSH2A
is asnp
is mentioned by
dbSNPrs483353056
ebirs483353056
HLIrs483353056
Exacrs483353056
Varsomers483353056
Maprs483353056
PheGenIrs483353056
hapmaprs483353056
1000 genomesrs483353056
hgdprs483353056
ensemblrs483353056
gopubmedrs483353056
geneviewrs483353056
scholarrs483353056
googlers483353056
pharmgkbrs483353056
gwascentralrs483353056
openSNPrs483353056
23andMers483353056
23andMe allrs483353056
SNP Nexus

SNPshotrs483353056
SNPdbers483353056
MSV3drs483353056
GWAS Ctlgrs483353056
Max Magnitude0
ClinVar
Risk rs483353056(A,T;A,T)
Alt rs483353056(A,T;A,T)
Reference rs483353056(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216073536G>T
CLNSRC ClinVar
CLNACC RCV000119825.1,