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rs587777497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777497(C;T)
Make rs587777497(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position45713747
GeneADCY1
is asnp
is mentioned by
dbSNPrs587777497
dbSNP (classic)rs587777497
ClinGenrs587777497
ebirs587777497
HLIrs587777497
Exacrs587777497
Gnomadrs587777497
Varsomers587777497
LitVarrs587777497
Maprs587777497
PheGenIrs587777497
Biobankrs587777497
1000 genomesrs587777497
hgdprs587777497
ensemblrs587777497
geneviewrs587777497
scholarrs587777497
googlers587777497
pharmgkbrs587777497
gwascentralrs587777497
openSNPrs587777497
23andMers587777497
SNPshotrs587777497
SNPdbers587777497
MSV3drs587777497
GWAS Ctlgrs587777497
Max Magnitude0
ClinVar
Risk rs587777497(T;T)
Alt rs587777497(T;T)
Reference Rs587777497(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ADCY1
CLNDBN Deafness, autosomal recessive 44
Reversed 0
HGVS NC_000007.13:g.45753346C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128528.5,