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

rs527236135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236135(C;T)
Make rs527236135(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position216231963
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236135
ebirs527236135
HLIrs527236135
Exacrs527236135
Varsomers527236135
Maprs527236135
PheGenIrs527236135
hapmaprs527236135
1000 genomesrs527236135
hgdprs527236135
ensemblrs527236135
gopubmedrs527236135
geneviewrs527236135
scholarrs527236135
googlers527236135
pharmgkbrs527236135
gwascentralrs527236135
openSNPrs527236135
23andMers527236135
23andMe allrs527236135
SNP Nexus

SNPshotrs527236135
SNPdbers527236135
MSV3drs527236135
GWAS Ctlgrs527236135
Max Magnitude0
ClinVar
Risk rs527236135(T;T)
Alt rs527236135(T;T)
Reference rs527236135(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216405305G>A
CLNSRC ClinVar
CLNACC RCV000132711.1,