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rs869312182

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312182(A;A)
Make rs869312182(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216000442
GeneUSH2A
is asnp
is mentioned by
dbSNPrs869312182
ebirs869312182
HLIrs869312182
Exacrs869312182
Varsomers869312182
Maprs869312182
PheGenIrs869312182
hapmaprs869312182
1000 genomesrs869312182
hgdprs869312182
ensemblrs869312182
gopubmedrs869312182
geneviewrs869312182
scholarrs869312182
googlers869312182
pharmgkbrs869312182
gwascentralrs869312182
openSNPrs869312182
23andMers869312182
23andMe allrs869312182
SNP Nexus

SNPshotrs869312182
SNPdbers869312182
MSV3drs869312182
GWAS Ctlgrs869312182
Max Magnitude0
ClinVar
Risk rs869312182(A;A)
Alt rs869312182(A;A)
Reference rs869312182(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome Retinal dystrophy
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A Retinal dystrophy
Reversed 1
HGVS NC_000001.10:g.216173784G>T
CLNSRC
CLNACC RCV000210323.1, RCV000225553.1,