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rs587776523

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776523(G;T)
Make rs587776523(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position129774756
GeneMIR96, MIR183
is asnp
is mentioned by
dbSNPrs587776523
dbSNP (classic)rs587776523
ClinGenrs587776523
ebirs587776523
HLIrs587776523
Exacrs587776523
Gnomadrs587776523
Varsomers587776523
LitVarrs587776523
Maprs587776523
PheGenIrs587776523
Biobankrs587776523
1000 genomesrs587776523
hgdprs587776523
ensemblrs587776523
geneviewrs587776523
scholarrs587776523
googlers587776523
pharmgkbrs587776523
gwascentralrs587776523
openSNPrs587776523
23andMers587776523
SNPshotrs587776523
SNPdbers587776523
MSV3drs587776523
GWAS Ctlgrs587776523
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk Rs587776523(G;G) rs587776523(T;T)
Alt Rs587776523(G;G) rs587776523(T;T)
Reference Rs587776523(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MIR183 MIR96
CLNDBN Deafness, autosomal dominant 50
Reversed 1
HGVS NC_000007.13:g.129414596G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000914.3,