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rs183258549

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier for a recessive mutation for deafness
Make rs183258549(A;A)
Make rs183258549(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position80460829
GenePTPRQ
is asnp
is mentioned by
dbSNPrs183258549
dbSNP (old)rs183258549
ClinGenrs183258549
ebirs183258549
HLIrs183258549
Exacrs183258549
Gnomadrs183258549
Varsomers183258549
Maprs183258549
PheGenIrs183258549
Biobankrs183258549
1000 genomesrs183258549
hgdprs183258549
ensemblrs183258549
gopubmedrs183258549
geneviewrs183258549
scholarrs183258549
googlers183258549
pharmgkbrs183258549
gwascentralrs183258549
openSNPrs183258549
23andMers183258549
23andMe allrs183258549
SNP Nexus

SNPshotrs183258549
SNPdbers183258549
MSV3drs183258549
GWAS Ctlgrs183258549
GMAF0.0009183
Max Magnitude3
ClinVar
Risk rs183258549(G;G) rs183258549(T;T)
Alt rs183258549(G;G) rs183258549(T;T)
Reference rs183258549(A;A)
Significance Untested
Disease Deafness
Variation info
Gene PTPRQ
CLNDBN Deafness, autosomal recessive 84
Reversed 1
HGVS NC_000012.12:g.80460829T>A
CLNSRC ClinVar
CLNACC RCV000144417.1,