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rs151148854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs151148854(C;C)
Make rs151148854(C;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position215675618
GeneUSH2A
is asnp
is mentioned by
dbSNPrs151148854
dbSNP (classic)rs151148854
ClinGenrs151148854
ebirs151148854
HLIrs151148854
Exacrs151148854
Gnomadrs151148854
Varsomers151148854
LitVarrs151148854
Maprs151148854
PheGenIrs151148854
Biobankrs151148854
1000 genomesrs151148854
hgdprs151148854
ensemblrs151148854
geneviewrs151148854
scholarrs151148854
googlers151148854
pharmgkbrs151148854
gwascentralrs151148854
openSNPrs151148854
23andMers151148854
SNPshotrs151148854
SNPdbers151148854
MSV3drs151148854
GWAS Ctlgrs151148854
Max Magnitude0
ClinVar
Risk rs151148854(C;C)
Alt rs151148854(C;C)
Reference Rs151148854(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.215848960T>C
CLNSRC ClinVar
CLNACC RCV000041714.2,