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rs118204030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204030(C;T)
Make rs118204030(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37725758
GeneTRIOBP
is asnp
is mentioned by
dbSNPrs118204030
ClinGenrs118204030
ebirs118204030
HLIrs118204030
Exacrs118204030
Varsomers118204030
Maprs118204030
PheGenIrs118204030
hapmaprs118204030
1000 genomesrs118204030
hgdprs118204030
ensemblrs118204030
gopubmedrs118204030
geneviewrs118204030
scholarrs118204030
googlers118204030
pharmgkbrs118204030
gwascentralrs118204030
openSNPrs118204030
23andMers118204030
23andMe allrs118204030
SNP Nexus

SNPshotrs118204030
SNPdbers118204030
MSV3drs118204030
GWAS Ctlgrs118204030
Max Magnitude0
OMIM609761
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118204030(T;T)
Alt rs118204030(T;T)
Reference Rs118204030(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene TRIOBP
CLNDBN Deafness, autosomal recessive 28
Reversed 0
HGVS NC_000022.10:g.38121765C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001559.3,