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rs281865414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a recessive mutation for deafness
Make rs281865414(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position80460707
GenePTPRQ
is asnp
is mentioned by
dbSNPrs281865414
ebirs281865414
HLIrs281865414
Exacrs281865414
Varsomers281865414
Maprs281865414
PheGenIrs281865414
hapmaprs281865414
1000 genomesrs281865414
hgdprs281865414
ensemblrs281865414
gopubmedrs281865414
geneviewrs281865414
scholarrs281865414
googlers281865414
pharmgkbrs281865414
gwascentralrs281865414
openSNPrs281865414
23andMers281865414
23andMe allrs281865414
SNP Nexus

SNPshotrs281865414
SNPdbers281865414
MSV3drs281865414
GWAS Ctlgrs281865414
Max Magnitude3
ClinVar
Risk rs281865414(G;G)
Alt rs281865414(G;G)
Reference rs281865414(A;A)
Significance Untested
Disease Deafness
Variation info
Gene PTPRQ
CLNDBN Deafness, autosomal recessive 84
Reversed 0
HGVS NC_000012.12:g.80460707A>G
CLNSRC ClinVar
CLNACC RCV000144416.1,