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rs431905518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905518(A;A)
Make rs431905518(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position103420821
GeneSLC26A5
is asnp
is mentioned by
dbSNPrs431905518
dbSNP (classic)rs431905518
ClinGenrs431905518
ebirs431905518
HLIrs431905518
Exacrs431905518
Gnomadrs431905518
Varsomers431905518
LitVarrs431905518
Maprs431905518
PheGenIrs431905518
Biobankrs431905518
1000 genomesrs431905518
hgdprs431905518
ensemblrs431905518
geneviewrs431905518
scholarrs431905518
googlers431905518
pharmgkbrs431905518
gwascentralrs431905518
openSNPrs431905518
23andMers431905518
SNPshotrs431905518
SNPdbers431905518
MSV3drs431905518
GWAS Ctlgrs431905518
Max Magnitude0
ClinVar
Risk rs431905518(A;A)
Alt rs431905518(A;A)
Reference Rs431905518(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene SLC26A5
CLNDBN Deafness, autosomal recessive 61
Reversed 1
HGVS NC_000007.13:g.103061268C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083267.6,