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rs797045113

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045113(C;T)
Make rs797045113(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position216175474
GeneUSH2A
is asnp
is mentioned by
dbSNPrs797045113
ebirs797045113
HLIrs797045113
Exacrs797045113
Varsomers797045113
Maprs797045113
PheGenIrs797045113
hapmaprs797045113
1000 genomesrs797045113
hgdprs797045113
ensemblrs797045113
gopubmedrs797045113
geneviewrs797045113
scholarrs797045113
googlers797045113
pharmgkbrs797045113
gwascentralrs797045113
openSNPrs797045113
23andMers797045113
23andMe allrs797045113
SNP Nexus

SNPshotrs797045113
SNPdbers797045113
MSV3drs797045113
GWAS Ctlgrs797045113
Max Magnitude0
ClinVar
Risk rs797045113(T;T)
Alt rs797045113(T;T)
Reference rs797045113(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216348816G>A
CLNSRC
CLNACC RCV000190638.1,