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rs397517973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517973(-;-)
Make rs397517973(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position215743314
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517973
ebirs397517973
HLIrs397517973
Exacrs397517973
Varsomers397517973
Maprs397517973
PheGenIrs397517973
hapmaprs397517973
1000 genomesrs397517973
hgdprs397517973
ensemblrs397517973
gopubmedrs397517973
geneviewrs397517973
scholarrs397517973
googlers397517973
pharmgkbrs397517973
gwascentralrs397517973
openSNPrs397517973
23andMers397517973
23andMe allrs397517973
SNP Nexus

SNPshotrs397517973
SNPdbers397517973
MSV3drs397517973
GWAS Ctlgrs397517973
Max Magnitude0
ClinVar
Risk rs397517973(;)
Alt rs397517973(;)
Reference rs397517973(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215916656delG
CLNSRC ClinVar
CLNACC RCV000041696.3,