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rs397517989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517989(A;A)
Make rs397517989(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215650755
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517989
ebirs397517989
HLIrs397517989
Exacrs397517989
Varsomers397517989
Maprs397517989
PheGenIrs397517989
hapmaprs397517989
1000 genomesrs397517989
hgdprs397517989
ensemblrs397517989
gopubmedrs397517989
geneviewrs397517989
scholarrs397517989
googlers397517989
pharmgkbrs397517989
gwascentralrs397517989
openSNPrs397517989
23andMers397517989
23andMe allrs397517989
SNP Nexus

SNPshotrs397517989
SNPdbers397517989
MSV3drs397517989
GWAS Ctlgrs397517989
Max Magnitude0
ClinVar
Risk rs397517989(A;A)
Alt rs397517989(A;A)
Reference rs397517989(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215824097C>T
CLNSRC ClinVar
CLNACC RCV000041752.2,