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rs397517974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517974(A;A)
Make rs397517974(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216325304
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517974
ebirs397517974
HLIrs397517974
Exacrs397517974
Varsomers397517974
Maprs397517974
PheGenIrs397517974
hapmaprs397517974
1000 genomesrs397517974
hgdprs397517974
ensemblrs397517974
gopubmedrs397517974
geneviewrs397517974
scholarrs397517974
googlers397517974
pharmgkbrs397517974
gwascentralrs397517974
openSNPrs397517974
23andMers397517974
23andMe allrs397517974
SNP Nexus

SNPshotrs397517974
SNPdbers397517974
MSV3drs397517974
GWAS Ctlgrs397517974
Max Magnitude0
ClinVar
Risk rs397517974(A;A)
Alt rs397517974(A;A)
Reference rs397517974(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216498646C>T
CLNSRC ClinVar
CLNACC RCV000041697.2,