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rs118204031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204031(C;T)
Make rs118204031(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37725905
GeneTRIOBP
is asnp
is mentioned by
dbSNPrs118204031
dbSNP (classic)rs118204031
ClinGenrs118204031
ebirs118204031
HLIrs118204031
Exacrs118204031
Gnomadrs118204031
Varsomers118204031
LitVarrs118204031
Maprs118204031
PheGenIrs118204031
Biobankrs118204031
1000 genomesrs118204031
hgdprs118204031
ensemblrs118204031
geneviewrs118204031
scholarrs118204031
googlers118204031
pharmgkbrs118204031
gwascentralrs118204031
openSNPrs118204031
23andMers118204031
SNPshotrs118204031
SNPdbers118204031
MSV3drs118204031
GWAS Ctlgrs118204031
Max Magnitude0
OMIM609761
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118204031(T;T)
Alt rs118204031(T;T)
Reference Rs118204031(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene TRIOBP
CLNDBN Deafness, autosomal recessive 28
Reversed 0
HGVS NC_000022.10:g.38121912C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001560.3,