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rs730880359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GGAGG) 3 Carrier of a DFNB7/11 deafness mutation
Make rs730880359(GGAGG;GGAGG)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position72694697
GeneTMC1
is asnp
is mentioned by
dbSNPrs730880359
dbSNP (classic)rs730880359
ClinGenrs730880359
ebirs730880359
HLIrs730880359
Exacrs730880359
Gnomadrs730880359
Varsomers730880359
LitVarrs730880359
Maprs730880359
PheGenIrs730880359
Biobankrs730880359
1000 genomesrs730880359
hgdprs730880359
ensemblrs730880359
geneviewrs730880359
scholarrs730880359
googlers730880359
pharmgkbrs730880359
gwascentralrs730880359
openSNPrs730880359
23andMers730880359
SNPshotrs730880359
SNPdbers730880359
MSV3drs730880359
GWAS Ctlgrs730880359
Max Magnitude3
ClinVar
Risk rs730880359(GGAGG;GGAGG)
Alt rs730880359(GGAGG;GGAGG)
Reference Rs730880359(-;-)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene TMC1
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 0
HGVS NC_000009.11:g.75309609_75309613dupGGAGG
CLNSRC
CLNACC RCV000156220.1,