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rs587777692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777692(G;T)
Make rs587777692(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position132619443
GeneP2RX2
is asnp
is mentioned by
dbSNPrs587777692
ebirs587777692
HLIrs587777692
Exacrs587777692
Varsomers587777692
Maprs587777692
PheGenIrs587777692
hapmaprs587777692
1000 genomesrs587777692
hgdprs587777692
ensemblrs587777692
gopubmedrs587777692
geneviewrs587777692
scholarrs587777692
googlers587777692
pharmgkbrs587777692
gwascentralrs587777692
openSNPrs587777692
23andMers587777692
23andMe allrs587777692
SNP Nexus

SNPshotrs587777692
SNPdbers587777692
MSV3drs587777692
GWAS Ctlgrs587777692
Max Magnitude0
ClinVar
Risk rs587777692(T;T)
Alt rs587777692(T;T)
Reference rs587777692(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene P2RX2
CLNDBN Deafness, autosomal dominant 41
Reversed 0
HGVS NC_000012.11:g.133196029G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000143842.3,