Have questions? Visit https://www.reddit.com/r/SNPedia

rs397518022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518022(C;C)
Make rs397518022(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216072887
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518022
ebirs397518022
HLIrs397518022
Exacrs397518022
Varsomers397518022
Maprs397518022
PheGenIrs397518022
hapmaprs397518022
1000 genomesrs397518022
hgdprs397518022
ensemblrs397518022
gopubmedrs397518022
geneviewrs397518022
scholarrs397518022
googlers397518022
pharmgkbrs397518022
gwascentralrs397518022
openSNPrs397518022
23andMers397518022
23andMe allrs397518022
SNP Nexus

SNPshotrs397518022
SNPdbers397518022
MSV3drs397518022
GWAS Ctlgrs397518022
Max Magnitude0
ClinVar
Risk rs397518022(C;C)
Alt rs397518022(C;C)
Reference rs397518022(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene LOC102723833 USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216246229A>G
CLNSRC ClinVar
CLNACC RCV000041870.2,