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rs397518023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518023(A;A)
Make rs397518023(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216070293
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518023
ebirs397518023
HLIrs397518023
Exacrs397518023
Varsomers397518023
Maprs397518023
PheGenIrs397518023
hapmaprs397518023
1000 genomesrs397518023
hgdprs397518023
ensemblrs397518023
gopubmedrs397518023
geneviewrs397518023
scholarrs397518023
googlers397518023
pharmgkbrs397518023
gwascentralrs397518023
openSNPrs397518023
23andMers397518023
23andMe allrs397518023
SNP Nexus

SNPshotrs397518023
SNPdbers397518023
MSV3drs397518023
GWAS Ctlgrs397518023
Max Magnitude0
ClinVar
Risk rs397518023(A;A)
Alt rs397518023(A;A)
Reference rs397518023(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216243635C>T
CLNSRC ClinVar
CLNACC RCV000041871.2,