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rs527236121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs527236121(-;-)
Make rs527236121(-;GA)
Make rs527236121(GA;GA)
ReferenceGRCh38 38.1/142
Chromosome1
Position216292292
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236121
ebirs527236121
HLIrs527236121
Exacrs527236121
Varsomers527236121
Maprs527236121
PheGenIrs527236121
hapmaprs527236121
1000 genomesrs527236121
hgdprs527236121
ensemblrs527236121
gopubmedrs527236121
geneviewrs527236121
scholarrs527236121
googlers527236121
pharmgkbrs527236121
gwascentralrs527236121
openSNPrs527236121
23andMers527236121
23andMe allrs527236121
SNP Nexus

SNPshotrs527236121
SNPdbers527236121
MSV3drs527236121
GWAS Ctlgrs527236121
Max Magnitude0
ClinVar
Risk rs527236121(GA;GA)
Alt rs527236121(GA;GA)
Reference rs527236121(;)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.216465634_216465635insTC
CLNSRC ClinVar
CLNACC RCV000132709.1,