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rs61729287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier for a recessive mutation for deafness
Make rs61729287(C;G)
Make rs61729287(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position80484531
GenePTPRQ
is asnp
is mentioned by
dbSNPrs61729287
dbSNP (classic)rs61729287
ClinGenrs61729287
ebirs61729287
HLIrs61729287
Exacrs61729287
Gnomadrs61729287
Varsomers61729287
LitVarrs61729287
Maprs61729287
PheGenIrs61729287
Biobankrs61729287
1000 genomesrs61729287
hgdprs61729287
ensemblrs61729287
geneviewrs61729287
scholarrs61729287
googlers61729287
pharmgkbrs61729287
gwascentralrs61729287
openSNPrs61729287
23andMers61729287
SNPshotrs61729287
SNPdbers61729287
MSV3drs61729287
GWAS Ctlgrs61729287
Max Magnitude3

The rare (T) allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.