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rs794729204

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794729204(C;C)
Make rs794729204(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position216200071
GeneLOC105372918, USH2A
is asnp
is mentioned by
dbSNPrs794729204
ebirs794729204
HLIrs794729204
Exacrs794729204
Varsomers794729204
Maprs794729204
PheGenIrs794729204
hapmaprs794729204
1000 genomesrs794729204
hgdprs794729204
ensemblrs794729204
gopubmedrs794729204
geneviewrs794729204
scholarrs794729204
googlers794729204
pharmgkbrs794729204
gwascentralrs794729204
openSNPrs794729204
23andMers794729204
23andMe allrs794729204
SNP Nexus

SNPshotrs794729204
SNPdbers794729204
MSV3drs794729204
GWAS Ctlgrs794729204
Max Magnitude0
ClinVar
Risk rs794729204(C;C)
Alt rs794729204(C;C)
Reference rs794729204(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216373413A>G
CLNSRC
CLNACC RCV000184023.1,