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rs397518011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518011(A;A)
Make rs397518011(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position216207280
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518011
ebirs397518011
HLIrs397518011
Exacrs397518011
Varsomers397518011
Maprs397518011
PheGenIrs397518011
hapmaprs397518011
1000 genomesrs397518011
hgdprs397518011
ensemblrs397518011
gopubmedrs397518011
geneviewrs397518011
scholarrs397518011
googlers397518011
pharmgkbrs397518011
gwascentralrs397518011
openSNPrs397518011
23andMers397518011
23andMe allrs397518011
SNP Nexus

SNPshotrs397518011
SNPdbers397518011
MSV3drs397518011
GWAS Ctlgrs397518011
Max Magnitude0
ClinVar
Risk rs397518011(A;A)
Alt rs397518011(A;A)
Reference Rs397518011(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216380622G>T
CLNSRC ClinVar
CLNACC RCV000041825.2,