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rs587776522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776522(C;T)
Make rs587776522(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position129774757
GeneMIR96, MIR183
is asnp
is mentioned by
dbSNPrs587776522
ebirs587776522
HLIrs587776522
Exacrs587776522
Varsomers587776522
Maprs587776522
PheGenIrs587776522
hapmaprs587776522
1000 genomesrs587776522
hgdprs587776522
ensemblrs587776522
gopubmedrs587776522
geneviewrs587776522
scholarrs587776522
googlers587776522
pharmgkbrs587776522
gwascentralrs587776522
openSNPrs587776522
23andMers587776522
23andMe allrs587776522
SNP Nexus

SNPshotrs587776522
SNPdbers587776522
MSV3drs587776522
GWAS Ctlgrs587776522
Max Magnitude0
ClinVar
Risk rs587776522(C,T;C,T)
Alt rs587776522(C,T;C,T)
Reference rs587776522(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MIR183 MIR96
CLNDBN Deafness, autosomal dominant 50
Reversed 1
HGVS NC_000007.13:g.129414597C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000913.3,