Have questions? Visit https://www.reddit.com/r/SNPedia

rs28941781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28941781(C;T)
Make rs28941781(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46709188
GeneTMIE
is asnp
is mentioned by
dbSNPrs28941781
ebirs28941781
HLIrs28941781
Exacrs28941781
Varsomers28941781
Maprs28941781
PheGenIrs28941781
hapmaprs28941781
1000 genomesrs28941781
hgdprs28941781
ensemblrs28941781
gopubmedrs28941781
geneviewrs28941781
scholarrs28941781
googlers28941781
pharmgkbrs28941781
gwascentralrs28941781
openSNPrs28941781
23andMers28941781
23andMe allrs28941781
SNP Nexus

SNPshotrs28941781
SNPdbers28941781
MSV3drs28941781
GWAS Ctlgrs28941781
Max Magnitude0
deafness
OMIM607237
DescDEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6
Variant0004
Relatedalso
Neighborrs28942097
Distance24
ClinVar
Risk rs28941781(T;T)
Alt rs28941781(T;T)
Reference rs28941781(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMIE
CLNDBN Deafness, autosomal recessive 6
Reversed 0
HGVS NC_000003.11:g.46750678C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003559.3,