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rs527236137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236137(C;T)
Make rs527236137(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position215674901
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236137
dbSNP (classic)rs527236137
ClinGenrs527236137
ebirs527236137
HLIrs527236137
Exacrs527236137
Gnomadrs527236137
Varsomers527236137
LitVarrs527236137
Maprs527236137
PheGenIrs527236137
Biobankrs527236137
1000 genomesrs527236137
hgdprs527236137
ensemblrs527236137
geneviewrs527236137
scholarrs527236137
googlers527236137
pharmgkbrs527236137
gwascentralrs527236137
openSNPrs527236137
23andMers527236137
SNPshotrs527236137
SNPdbers527236137
MSV3drs527236137
GWAS Ctlgrs527236137
Max Magnitude0
ClinVar
Risk rs527236137(T;T)
Alt rs527236137(T;T)
Reference Rs527236137(C;C)
Significance Other
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215848243G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000132703.2,