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

rs1052030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1052030(C;C)
Make rs1052030(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77142737
GeneMYO7A
is asnp
is mentioned by
dbSNPrs1052030
ebirs1052030
HLIrs1052030
Exacrs1052030
Varsomers1052030
Maprs1052030
PheGenIrs1052030
hapmaprs1052030
1000 genomesrs1052030
hgdprs1052030
ensemblrs1052030
gopubmedrs1052030
geneviewrs1052030
scholarrs1052030
googlers1052030
pharmgkbrs1052030
gwascentralrs1052030
openSNPrs1052030
23andMers1052030
23andMe allrs1052030
SNP Nexus

SNPshotrs1052030
SNPdbers1052030
MSV3drs1052030
GWAS Ctlgrs1052030
GMAF0.4853
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene MYO7A
allele C
frequency 0.3
sift TOLERATED
HuRef 1103649728653
Disease Association Defects in MYO7A are the cause of autosomal dominant nonsyndromic sensorineural deafness 11 (DFNA11) (MIM:601317). DFNA11 is a form of nonsyndromic sensorineural deafness with onset after complete speech acquisition and subsequent gradual progression.



ClinVar
Risk rs1052030(C;C)
Alt rs1052030(C;C)
Reference rs1052030(T;T)
Significance Probable-non-pathogenic
Disease not specified not provided
Variation info
Gene MYO7A
CLNDBN not specified not provided
Reversed 0
HGVS NC_000011.9:g.76853783T>C
CLNSRC ClinVar
CLNACC RCV000036163.3, RCV000132571.1,



[PMID 18776599OA-icon.png] Susceptibility genes for gentamicin-induced vestibular dysfunction.


GET Evidence
MYO7A-L16S
aa_change Leu16Ser
aa_change_short L16S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.469897
summary