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

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
dbSNP (classic)rs754554
ClinGenrs754554
ebirs754554
HLIrs754554
Exacrs754554
Gnomadrs754554
Varsomers754554
LitVarrs754554
Maprs754554
PheGenIrs754554
Biobankrs754554
1000 genomesrs754554
hgdprs754554
ensemblrs754554
geneviewrs754554
scholarrs754554
googlers754554
pharmgkbrs754554
gwascentralrs754554
openSNPrs754554
23andMers754554
SNPshotrs754554
SNPdbers754554
MSV3drs754554
GWAS Ctlgrs754554
GMAF0.242
Max Magnitude0
? (A;A) (A;C) (C;C) 28




ClinVar
Risk rs754554(A;A) rs754554(G;G)
Alt rs754554(A;A) rs754554(G;G)
Reference Rs754554(C;C)
Significance Probable-non-pathogenic
Disease not specified Nonsyndromic Hearing Loss
Variation info
Gene DFNA5
CLNDBN not specified Nonsyndromic Hearing Loss, Mixed
Reversed 1
HGVS NC_000007.13:g.24758818G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000037974.2, RCV000279194.1,