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rs397518014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518014(-;-)
Make rs397518014(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216199880
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518014
ebirs397518014
HLIrs397518014
Exacrs397518014
Varsomers397518014
Maprs397518014
PheGenIrs397518014
hapmaprs397518014
1000 genomesrs397518014
hgdprs397518014
ensemblrs397518014
gopubmedrs397518014
geneviewrs397518014
scholarrs397518014
googlers397518014
pharmgkbrs397518014
gwascentralrs397518014
openSNPrs397518014
23andMers397518014
23andMe allrs397518014
SNP Nexus

SNPshotrs397518014
SNPdbers397518014
MSV3drs397518014
GWAS Ctlgrs397518014
Max Magnitude0
ClinVar
Risk rs397518014(;)
Alt rs397518014(;)
Reference rs397518014(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216373222delA
CLNSRC ClinVar
CLNACC RCV000041830.2,