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rs772264564

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a recessive deafness mutation
Make rs772264564(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position20189117
GeneGJB2
is asnp
is mentioned by
dbSNPrs772264564
ebirs772264564
HLIrs772264564
Exacrs772264564
Varsomers772264564
Maprs772264564
PheGenIrs772264564
hapmaprs772264564
1000 genomesrs772264564
hgdprs772264564
ensemblrs772264564
gopubmedrs772264564
geneviewrs772264564
scholarrs772264564
googlers772264564
pharmgkbrs772264564
gwascentralrs772264564
openSNPrs772264564
23andMers772264564
23andMe allrs772264564
SNP Nexus

SNPshotrs772264564
SNPdbers772264564
MSV3drs772264564
GWAS Ctlgrs772264564
Max Magnitude3
ClinVar
Risk rs772264564(T;T)
Alt rs772264564(T;T)
Reference rs772264564(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763256A>T
CLNSRC
CLNACC RCV000175761.1,