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rs754554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs754554(A;A)
Make rs754554(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position24719199
GeneDFNA5
is asnp
is mentioned by
dbSNPrs754554
ebirs754554
HLIrs754554
Exacrs754554
Varsomers754554
Maprs754554
PheGenIrs754554
hapmaprs754554
1000 genomesrs754554
hgdprs754554
ensemblrs754554
gopubmedrs754554
geneviewrs754554
scholarrs754554
googlers754554
pharmgkbrs754554
gwascentralrs754554
openSNPrs754554
23andMers754554
23andMe allrs754554
SNP Nexus

SNPshotrs754554
SNPdbers754554
MSV3drs754554
GWAS Ctlgrs754554
GMAF0.242
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene DFNA5
allele T
frequency 0.119
sift TOLERATED
HuRef 1103652524659
Disease Association Defects in DFNA5 are the cause of autosomal dominant nonsyndromic sensorineural deafness type 5 (DFNA5) (MIM:600994).



GET Evidence
DFNA5-P142T
aa_change Pro142Thr
aa_change_short P142T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.166481
summary



ClinVar
Risk rs754554(A;A)
Alt rs754554(A;A)
Reference rs754554(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNA5
CLNDBN not specified
Reversed 1
HGVS NC_000007.13:g.24758818G>T
CLNSRC ClinVar
CLNACC RCV000037974.2,