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

rs527236127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236127(A;A)
Make rs527236127(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position215674445
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236127
dbSNP (classic)rs527236127
ClinGenrs527236127
ebirs527236127
HLIrs527236127
Exacrs527236127
Gnomadrs527236127
Varsomers527236127
LitVarrs527236127
Maprs527236127
PheGenIrs527236127
Biobankrs527236127
1000 genomesrs527236127
hgdprs527236127
ensemblrs527236127
geneviewrs527236127
scholarrs527236127
googlers527236127
pharmgkbrs527236127
gwascentralrs527236127
openSNPrs527236127
23andMers527236127
SNPshotrs527236127
SNPdbers527236127
MSV3drs527236127
GWAS Ctlgrs527236127
Max Magnitude0
ClinVar
Risk rs527236127(A;A)
Alt rs527236127(A;A)
Reference Rs527236127(G;G)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.215847787C>T
CLNSRC ClinVar
CLNACC RCV000132704.1,