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rs150529554

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a recessive deafness mutation
Make rs150529554(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189227
GeneGJB2
is asnp
is mentioned by
dbSNPrs150529554
ebirs150529554
HLIrs150529554
Exacrs150529554
Varsomers150529554
Maprs150529554
PheGenIrs150529554
hapmaprs150529554
1000 genomesrs150529554
hgdprs150529554
ensemblrs150529554
gopubmedrs150529554
geneviewrs150529554
scholarrs150529554
googlers150529554
pharmgkbrs150529554
gwascentralrs150529554
openSNPrs150529554
23andMers150529554
23andMe allrs150529554
SNP Nexus

SNPshotrs150529554
SNPdbers150529554
MSV3drs150529554
GWAS Ctlgrs150529554
Max Magnitude3
ClinVar
Risk rs150529554(T;T)
Alt rs150529554(T;T)
Reference rs150529554(C;C)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763366C>T
CLNSRC
CLNACC RCV000168672.1,