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rs183431253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs183431253(A;A)
Make rs183431253(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71790413
GeneCDH23, MIR7152
is asnp
is mentioned by
dbSNPrs183431253
dbSNP (classic)rs183431253
ClinGenrs183431253
ebirs183431253
HLIrs183431253
Exacrs183431253
Gnomadrs183431253
Varsomers183431253
LitVarrs183431253
Maprs183431253
PheGenIrs183431253
Biobankrs183431253
1000 genomesrs183431253
hgdprs183431253
ensemblrs183431253
geneviewrs183431253
scholarrs183431253
googlers183431253
pharmgkbrs183431253
gwascentralrs183431253
openSNPrs183431253
23andMers183431253
SNPshotrs183431253
SNPdbers183431253
MSV3drs183431253
GWAS Ctlgrs183431253
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs183431253(A;A)
Alt rs183431253(A;A)
Reference Rs183431253(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene MIR7152 CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73550170G>A
CLNSRC ClinVar
CLNACC RCV000039235.2,