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

rs431905517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs431905517(A;C)
Make rs431905517(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position103413015
GeneSLC26A5
is asnp
is mentioned by
dbSNPrs431905517
dbSNP (classic)rs431905517
ClinGenrs431905517
ebirs431905517
HLIrs431905517
Exacrs431905517
Gnomadrs431905517
Varsomers431905517
LitVarrs431905517
Maprs431905517
PheGenIrs431905517
Biobankrs431905517
1000 genomesrs431905517
hgdprs431905517
ensemblrs431905517
geneviewrs431905517
scholarrs431905517
googlers431905517
pharmgkbrs431905517
gwascentralrs431905517
openSNPrs431905517
23andMers431905517
SNPshotrs431905517
SNPdbers431905517
MSV3drs431905517
GWAS Ctlgrs431905517
Max Magnitude0
ClinVar
Risk rs431905517(C;C)
Alt rs431905517(C;C)
Reference Rs431905517(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene SLC26A5
CLNDBN Deafness, autosomal recessive 61
Reversed 1
HGVS NC_000007.13:g.103053462T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000083266.6,