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rs756484720

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 3 Carrier of a recessive deafness mutation
(TT;TT) 0 common in clinvar
Make rs756484720(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189247
GeneGJB2
is asnp
is mentioned by
dbSNPrs756484720
ebirs756484720
HLIrs756484720
Exacrs756484720
Varsomers756484720
Maprs756484720
PheGenIrs756484720
hapmaprs756484720
1000 genomesrs756484720
hgdprs756484720
ensemblrs756484720
gopubmedrs756484720
geneviewrs756484720
scholarrs756484720
googlers756484720
pharmgkbrs756484720
gwascentralrs756484720
openSNPrs756484720
23andMers756484720
23andMe allrs756484720
SNP Nexus

SNPshotrs756484720
SNPdbers756484720
MSV3drs756484720
GWAS Ctlgrs756484720
Max Magnitude3
ClinVar
Risk rs756484720(;)
Alt rs756484720(;)
Reference rs756484720(TT;TT)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763386_20763387delTT
CLNSRC
CLNACC RCV000169446.1,