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rs527236139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236139(A;A)
Make rs527236139(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position215759735
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236139
ebirs527236139
HLIrs527236139
Exacrs527236139
Varsomers527236139
Maprs527236139
PheGenIrs527236139
hapmaprs527236139
1000 genomesrs527236139
hgdprs527236139
ensemblrs527236139
gopubmedrs527236139
geneviewrs527236139
scholarrs527236139
googlers527236139
pharmgkbrs527236139
gwascentralrs527236139
openSNPrs527236139
23andMers527236139
23andMe allrs527236139
SNP Nexus

SNPshotrs527236139
SNPdbers527236139
MSV3drs527236139
GWAS Ctlgrs527236139
Max Magnitude0
ClinVar
Risk rs527236139(A,T;A,T)
Alt rs527236139(A,T;A,T)
Reference rs527236139(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215933077C>T
CLNSRC ClinVar
CLNACC RCV000132701.1,