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rs1060499811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499811(A;A)
Make rs1060499811(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position42384004
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs1060499811
dbSNP (old)rs1060499811
ClinGenrs1060499811
ebirs1060499811
HLIrs1060499811
Exacrs1060499811
Gnomadrs1060499811
Varsomers1060499811
Maprs1060499811
PheGenIrs1060499811
Biobankrs1060499811
1000 genomesrs1060499811
hgdprs1060499811
ensemblrs1060499811
gopubmedrs1060499811
geneviewrs1060499811
scholarrs1060499811
googlers1060499811
pharmgkbrs1060499811
gwascentralrs1060499811
openSNPrs1060499811
23andMers1060499811
23andMe allrs1060499811
SNPshotrs1060499811
SNPdbers1060499811
MSV3drs1060499811
GWAS Ctlgrs1060499811
Max Magnitude0
ClinVar
Risk rs1060499811(A;A)
Alt rs1060499811(A;A)
Reference Rs1060499811(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8
Reversed 1
HGVS NC_000021.8:g.43804113A>T
CLNSRC
CLNACC RCV000454259.1,