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rs587777691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777691(A;A)
Make rs587777691(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position15681274
GeneEPS8
is asnp
is mentioned by
dbSNPrs587777691
ebirs587777691
HLIrs587777691
Exacrs587777691
Varsomers587777691
Maprs587777691
PheGenIrs587777691
hapmaprs587777691
1000 genomesrs587777691
hgdprs587777691
ensemblrs587777691
gopubmedrs587777691
geneviewrs587777691
scholarrs587777691
googlers587777691
pharmgkbrs587777691
gwascentralrs587777691
openSNPrs587777691
23andMers587777691
23andMe allrs587777691
SNP Nexus

SNPshotrs587777691
SNPdbers587777691
MSV3drs587777691
GWAS Ctlgrs587777691
Max Magnitude0
ClinVar
Risk rs587777691(A,G;A,G)
Alt rs587777691(A,G;A,G)
Reference rs587777691(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene EPS8
CLNDBN Deafness, autosomal recessive 102
Reversed 1
HGVS NC_000012.11:g.15834208G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000143841.4,