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rs758705873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758705873(A;A)
Make rs758705873(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216200111
GeneLOC105372918, USH2A
is asnp
is mentioned by
dbSNPrs758705873
dbSNP (classic)rs758705873
ClinGenrs758705873
ebirs758705873
HLIrs758705873
Exacrs758705873
Gnomadrs758705873
Varsomers758705873
LitVarrs758705873
Maprs758705873
PheGenIrs758705873
Biobankrs758705873
1000 genomesrs758705873
hgdprs758705873
ensemblrs758705873
geneviewrs758705873
scholarrs758705873
googlers758705873
pharmgkbrs758705873
gwascentralrs758705873
openSNPrs758705873
23andMers758705873
SNPshotrs758705873
SNPdbers758705873
MSV3drs758705873
GWAS Ctlgrs758705873
Max Magnitude0
ClinVar
Risk rs758705873(A;A) rs758705873(T;T)
Alt rs758705873(A;A) rs758705873(T;T)
Reference Rs758705873(G;G)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene USH2A
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000001.10:g.216373453G>T
CLNSRC
CLNACC RCV000225579.1,