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rs397517988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397517988(-;-)
Make rs397517988(-;A)
Make rs397517988(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position215671073
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517988
ebirs397517988
HLIrs397517988
Exacrs397517988
Varsomers397517988
Maprs397517988
PheGenIrs397517988
hapmaprs397517988
1000 genomesrs397517988
hgdprs397517988
ensemblrs397517988
gopubmedrs397517988
geneviewrs397517988
scholarrs397517988
googlers397517988
pharmgkbrs397517988
gwascentralrs397517988
openSNPrs397517988
23andMers397517988
23andMe allrs397517988
SNP Nexus

SNPshotrs397517988
SNPdbers397517988
MSV3drs397517988
GWAS Ctlgrs397517988
Max Magnitude0
ClinVar
Risk rs397517988(A;A)
Alt rs397517988(A;A)
Reference rs397517988(;)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215844416dupT
CLNSRC ClinVar
CLNACC RCV000041749.2,