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rs794727579

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727579(C;T)
Make rs794727579(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position215998943
GeneUSH2A
is asnp
is mentioned by
dbSNPrs794727579
ebirs794727579
HLIrs794727579
Exacrs794727579
Varsomers794727579
Maprs794727579
PheGenIrs794727579
hapmaprs794727579
1000 genomesrs794727579
hgdprs794727579
ensemblrs794727579
gopubmedrs794727579
geneviewrs794727579
scholarrs794727579
googlers794727579
pharmgkbrs794727579
gwascentralrs794727579
openSNPrs794727579
23andMers794727579
23andMe allrs794727579
SNP Nexus

SNPshotrs794727579
SNPdbers794727579
MSV3drs794727579
GWAS Ctlgrs794727579
Max Magnitude0
ClinVar
Risk rs794727579(T;T)
Alt rs794727579(T;T)
Reference rs794727579(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216172285G>A
CLNSRC
CLNACC RCV000177821.1,