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rs118203989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203989(C;T)
Make rs118203989(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178456101
GeneDFNB59
is asnp
is mentioned by
dbSNPrs118203989
ebirs118203989
HLIrs118203989
Exacrs118203989
Varsomers118203989
Maprs118203989
PheGenIrs118203989
hapmaprs118203989
1000 genomesrs118203989
hgdprs118203989
ensemblrs118203989
gopubmedrs118203989
geneviewrs118203989
scholarrs118203989
googlers118203989
pharmgkbrs118203989
gwascentralrs118203989
openSNPrs118203989
23andMers118203989
23andMe allrs118203989
SNP Nexus

SNPshotrs118203989
SNPdbers118203989
MSV3drs118203989
GWAS Ctlgrs118203989
Max Magnitude0
OMIM610219
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203989(G,T;G,T)
Alt rs118203989(G,T;G,T)
Reference rs118203989(C;C)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene DFNB59
CLNDBN Deafness, autosomal recessive 59 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000002.11:g.179320828C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001363.2, RCV000223480.1,