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rs876657371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCCCAG;AGCCCAG) 0 common in clinvar
Make rs876657371(AGCCCAG;C)
Make rs876657371(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position46705788
GeneTMIE
is asnp
is mentioned by
dbSNPrs876657371
dbSNP (classic)rs876657371
ClinGenrs876657371
ebirs876657371
HLIrs876657371
Exacrs876657371
Gnomadrs876657371
Varsomers876657371
LitVarrs876657371
Maprs876657371
PheGenIrs876657371
Biobankrs876657371
1000 genomesrs876657371
hgdprs876657371
ensemblrs876657371
geneviewrs876657371
scholarrs876657371
googlers876657371
pharmgkbrs876657371
gwascentralrs876657371
openSNPrs876657371
23andMers876657371
SNPshotrs876657371
SNPdbers876657371
MSV3drs876657371
GWAS Ctlgrs876657371
Max Magnitude0
ClinVar
Risk rs876657371(C;C)
Alt rs876657371(C;C)
Reference Rs876657371(AGCCCAG;AGCCCAG)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMIE
CLNDBN Deafness, autosomal recessive 6
Reversed 0
HGVS NC_000003.11:g.46747278_46747284delAGCCCAGinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003560.4,