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

rs118203988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203988(C;T)
Make rs118203988(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178453570
GeneDFNB59
is asnp
is mentioned by
dbSNPrs118203988
ebirs118203988
HLIrs118203988
Exacrs118203988
Varsomers118203988
Maprs118203988
PheGenIrs118203988
hapmaprs118203988
1000 genomesrs118203988
hgdprs118203988
ensemblrs118203988
gopubmedrs118203988
geneviewrs118203988
scholarrs118203988
googlers118203988
pharmgkbrs118203988
gwascentralrs118203988
openSNPrs118203988
23andMers118203988
23andMe allrs118203988
SNP Nexus

SNPshotrs118203988
SNPdbers118203988
MSV3drs118203988
GWAS Ctlgrs118203988
Max Magnitude0
OMIM610219
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203988(T;T)
Alt rs118203988(T;T)
Reference rs118203988(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene DFNB59
CLNDBN Deafness, autosomal recessive 59
Reversed 0
HGVS NC_000002.11:g.179318297C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001361.2,