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rs869312186

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312186(G;T)
Make rs869312186(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216190298
GeneUSH2A
is asnp
is mentioned by
dbSNPrs869312186
ebirs869312186
HLIrs869312186
Exacrs869312186
Varsomers869312186
Maprs869312186
PheGenIrs869312186
hapmaprs869312186
1000 genomesrs869312186
hgdprs869312186
ensemblrs869312186
gopubmedrs869312186
geneviewrs869312186
scholarrs869312186
googlers869312186
pharmgkbrs869312186
gwascentralrs869312186
openSNPrs869312186
23andMers869312186
23andMe allrs869312186
SNP Nexus

SNPshotrs869312186
SNPdbers869312186
MSV3drs869312186
GWAS Ctlgrs869312186
Max Magnitude0
ClinVar
Risk rs869312186(T;T)
Alt rs869312186(T;T)
Reference rs869312186(G;G)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene USH2A
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000001.10:g.216363640C>A
CLNSRC
CLNACC RCV000210293.1,