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rs727504554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 3 Carrier of a DFNB7/11 deafness mutation
(A;A) 0 common in clinvar


Make rs727504554(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position72688714
GeneTMC1
is asnp
is mentioned by
dbSNPrs727504554
dbSNP (classic)rs727504554
ClinGenrs727504554
ebirs727504554
HLIrs727504554
Exacrs727504554
Gnomadrs727504554
Varsomers727504554
LitVarrs727504554
Maprs727504554
PheGenIrs727504554
Biobankrs727504554
1000 genomesrs727504554
hgdprs727504554
ensemblrs727504554
geneviewrs727504554
scholarrs727504554
googlers727504554
pharmgkbrs727504554
gwascentralrs727504554
openSNPrs727504554
23andMers727504554
SNPshotrs727504554
SNPdbers727504554
MSV3drs727504554
GWAS Ctlgrs727504554
Max Magnitude3
ClinVar
Risk rs727504554(-;-)
Alt rs727504554(-;-)
Reference Rs727504554(A;A)
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.75303630delA
CLNSRC
CLNACC RCV000155718.1,