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rs587777040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777040(C;C)
Make rs587777040(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position85389806
GeneELMOD3
is asnp
is mentioned by
dbSNPrs587777040
ebirs587777040
HLIrs587777040
Exacrs587777040
Varsomers587777040
Maprs587777040
PheGenIrs587777040
hapmaprs587777040
1000 genomesrs587777040
hgdprs587777040
ensemblrs587777040
gopubmedrs587777040
geneviewrs587777040
scholarrs587777040
googlers587777040
pharmgkbrs587777040
gwascentralrs587777040
openSNPrs587777040
23andMers587777040
23andMe allrs587777040
SNP Nexus

SNPshotrs587777040
SNPdbers587777040
MSV3drs587777040
GWAS Ctlgrs587777040
Max Magnitude0
ClinVar
Risk rs587777040(C;C)
Alt rs587777040(C;C)
Reference rs587777040(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene ELMOD3
CLNDBN Deafness, autosomal recessive 88
Reversed 0
HGVS NC_000002.11:g.85616929T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055658.3,