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rs760225886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760225886(C;T)
Make rs760225886(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position215816996
GeneUSH2A
is asnp
is mentioned by
dbSNPrs760225886
dbSNP (classic)rs760225886
ClinGenrs760225886
ebirs760225886
HLIrs760225886
Exacrs760225886
Gnomadrs760225886
Varsomers760225886
LitVarrs760225886
Maprs760225886
PheGenIrs760225886
Biobankrs760225886
1000 genomesrs760225886
hgdprs760225886
ensemblrs760225886
geneviewrs760225886
scholarrs760225886
googlers760225886
pharmgkbrs760225886
gwascentralrs760225886
openSNPrs760225886
23andMers760225886
SNPshotrs760225886
SNPdbers760225886
MSV3drs760225886
GWAS Ctlgrs760225886
Max Magnitude0
ClinVar
Risk rs760225886(T;T)
Alt rs760225886(T;T)
Reference Rs760225886(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.215990338C>T
CLNSRC
CLNACC RCV000217703.1,