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rs201527662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201527662(A;C)
Make rs201527662(C;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position216246592
GeneUSH2A
is asnp
is mentioned by
dbSNPrs201527662
dbSNP (classic)rs201527662
ClinGenrs201527662
ebirs201527662
HLIrs201527662
Exacrs201527662
Gnomadrs201527662
Varsomers201527662
LitVarrs201527662
Maprs201527662
PheGenIrs201527662
Biobankrs201527662
1000 genomesrs201527662
hgdprs201527662
ensemblrs201527662
geneviewrs201527662
scholarrs201527662
googlers201527662
pharmgkbrs201527662
gwascentralrs201527662
openSNPrs201527662
23andMers201527662
SNPshotrs201527662
SNPdbers201527662
MSV3drs201527662
GWAS Ctlgrs201527662
Max Magnitude0
ClinVar
Risk rs201527662(C;C)
Alt rs201527662(C;C)
Reference Rs201527662(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa
Reversed 0
HGVS NC_000001.10:g.216419934A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000132710.1,