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rs140236996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140236996(C;T)
Make rs140236996(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position121168064
GeneTECTA
is asnp
is mentioned by
dbSNPrs140236996
dbSNP (classic)rs140236996
ClinGenrs140236996
ebirs140236996
HLIrs140236996
Exacrs140236996
Gnomadrs140236996
Varsomers140236996
LitVarrs140236996
Maprs140236996
PheGenIrs140236996
Biobankrs140236996
1000 genomesrs140236996
hgdprs140236996
ensemblrs140236996
geneviewrs140236996
scholarrs140236996
googlers140236996
pharmgkbrs140236996
gwascentralrs140236996
openSNPrs140236996
23andMers140236996
SNPshotrs140236996
SNPdbers140236996
MSV3drs140236996
GWAS Ctlgrs140236996
Max Magnitude0
ClinVar
Risk rs140236996(G;G) rs140236996(T;T)
Alt rs140236996(G;G) rs140236996(T;T)
Reference Rs140236996(C;C)
Significance Pathogenic
Disease Deafness Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss not provided
Variation info
Gene TECTA
CLNDBN Deafness, autosomal dominant 12 Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant not provided
Reversed 0
HGVS NC_000011.9:g.121038773C>T
CLNSRC
CLNACC RCV000225064.2, RCV000264805.1, RCV000324612.1, RCV000479439.1,