Have questions? Visit https://www.reddit.com/r/SNPedia

rs527236138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236138(C;T)
Make rs527236138(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position215680364
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236138
ebirs527236138
HLIrs527236138
Exacrs527236138
Varsomers527236138
Maprs527236138
PheGenIrs527236138
hapmaprs527236138
1000 genomesrs527236138
hgdprs527236138
ensemblrs527236138
gopubmedrs527236138
geneviewrs527236138
scholarrs527236138
googlers527236138
pharmgkbrs527236138
gwascentralrs527236138
openSNPrs527236138
23andMers527236138
23andMe allrs527236138
SNP Nexus

SNPshotrs527236138
SNPdbers527236138
MSV3drs527236138
GWAS Ctlgrs527236138
Max Magnitude0
ClinVar
Risk rs527236138(T;T)
Alt rs527236138(T;T)
Reference rs527236138(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215853706G>A
CLNSRC ClinVar
CLNACC RCV000132702.1,