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rs397517976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517976(A;A)
Make rs397517976(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215728142
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517976
ebirs397517976
HLIrs397517976
Exacrs397517976
Varsomers397517976
Maprs397517976
PheGenIrs397517976
hapmaprs397517976
1000 genomesrs397517976
hgdprs397517976
ensemblrs397517976
gopubmedrs397517976
geneviewrs397517976
scholarrs397517976
googlers397517976
pharmgkbrs397517976
gwascentralrs397517976
openSNPrs397517976
23andMers397517976
23andMe allrs397517976
SNP Nexus

SNPshotrs397517976
SNPdbers397517976
MSV3drs397517976
GWAS Ctlgrs397517976
Max Magnitude0
ClinVar
Risk rs397517976(A;A)
Alt rs397517976(A;A)
Reference rs397517976(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215901484C>T
CLNSRC ClinVar
CLNACC RCV000041710.2,