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rs532203068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a recessive deafness mutation
(T;T) 0 common/normal


Make rs532203068(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20188999
GeneGJB2
is asnp
is mentioned by
dbSNPrs532203068
ClinGenrs532203068
ebirs532203068
HLIrs532203068
Exacrs532203068
Varsomers532203068
Maprs532203068
PheGenIrs532203068
Biobankrs532203068
1000 genomesrs532203068
hgdprs532203068
ensemblrs532203068
gopubmedrs532203068
geneviewrs532203068
scholarrs532203068
googlers532203068
pharmgkbrs532203068
gwascentralrs532203068
openSNPrs532203068
23andMers532203068
23andMe allrs532203068
SNP Nexus

SNPshotrs532203068
SNPdbers532203068
MSV3drs532203068
GWAS Ctlgrs532203068
Max Magnitude3
ClinVar
Risk rs532203068(A;A) rs532203068(C;C)
Alt rs532203068(A;A) rs532203068(C;C)
Reference Rs532203068(T;T)
Significance Unknown
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763138T>C
CLNSRC
CLNACC RCV000490342.1,