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rs431905513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs431905513(A;T)
Make rs431905513(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position115040947
GeneTNC
is asnp
is mentioned by
dbSNPrs431905513
dbSNP (classic)rs431905513
ClinGenrs431905513
ebirs431905513
HLIrs431905513
Exacrs431905513
Gnomadrs431905513
Varsomers431905513
LitVarrs431905513
Maprs431905513
PheGenIrs431905513
Biobankrs431905513
1000 genomesrs431905513
hgdprs431905513
ensemblrs431905513
geneviewrs431905513
scholarrs431905513
googlers431905513
pharmgkbrs431905513
gwascentralrs431905513
openSNPrs431905513
23andMers431905513
SNPshotrs431905513
SNPdbers431905513
MSV3drs431905513
GWAS Ctlgrs431905513
Max Magnitude0
ClinVar
Risk rs431905513(T;T)
Alt rs431905513(T;T)
Reference Rs431905513(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene TNC
CLNDBN Deafness, autosomal dominant 56
Reversed 1
HGVS NC_000009.11:g.117803226T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000083260.2,