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rs1796993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0
Make rs1796993(C;T)
Make rs1796993(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position72700522
GeneTMC1
is asnp
is mentioned by
dbSNPrs1796993
ebirs1796993
HLIrs1796993
Exacrs1796993
Varsomers1796993
Maprs1796993
PheGenIrs1796993
hapmaprs1796993
1000 genomesrs1796993
hgdprs1796993
ensemblrs1796993
gopubmedrs1796993
geneviewrs1796993
scholarrs1796993
googlers1796993
pharmgkbrs1796993
gwascentralrs1796993
openSNPrs1796993
23andMers1796993
23andMe allrs1796993
SNP Nexus

SNPshotrs1796993
SNPdbers1796993
MSV3drs1796993
GWAS Ctlgrs1796993
GMAF0.2746
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene TMC1
allele A
frequency 0.217
sift TOLERATED
HuRef 1103652094873
Disease Association Defects in TMC1 are the cause of autosomal recessive neurosensory deafness 7 (DFNB7) (MIM:600974); also known as autosomal recessive neurosensory deafness 11 (DFNB11). This nonsyndromic sensorineural hearing loss is congenital and profound.



ClinVar
Risk rs1796993(T;T)
Alt rs1796993(T;T)
Reference rs1796993(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TMC1
CLNDBN not specified
Reversed 1
HGVS NC_000009.11:g.75315438G>A
CLNSRC ClinVar
CLNACC RCV000041139.2,



[PMID 16134132OA-icon.png] Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.


GET Evidence
TMC1-E81K
aa_change Glu81Lys
aa_change_short E81K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.202326
summary