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rs397517982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517982(A;A)
Make rs397517982(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215675172
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517982
ebirs397517982
HLIrs397517982
Exacrs397517982
Varsomers397517982
Maprs397517982
PheGenIrs397517982
hapmaprs397517982
1000 genomesrs397517982
hgdprs397517982
ensemblrs397517982
gopubmedrs397517982
geneviewrs397517982
scholarrs397517982
googlers397517982
pharmgkbrs397517982
gwascentralrs397517982
openSNPrs397517982
23andMers397517982
23andMe allrs397517982
SNP Nexus

SNPshotrs397517982
SNPdbers397517982
MSV3drs397517982
GWAS Ctlgrs397517982
Max Magnitude0
ClinVar
Risk rs397517982(A;A)
Alt rs397517982(A;A)
Reference rs397517982(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215848514C>T
CLNSRC ClinVar
CLNACC RCV000041729.2,