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rs111033203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033203(A;G)
Make rs111033203(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189388
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033203
dbSNP (classic)rs111033203
ClinGenrs111033203
ebirs111033203
HLIrs111033203
Exacrs111033203
Gnomadrs111033203
Varsomers111033203
LitVarrs111033203
Maprs111033203
PheGenIrs111033203
Biobankrs111033203
1000 genomesrs111033203
hgdprs111033203
ensemblrs111033203
geneviewrs111033203
scholarrs111033203
googlers111033203
pharmgkbrs111033203
gwascentralrs111033203
openSNPrs111033203
23andMers111033203
SNPshotrs111033203
SNPdbers111033203
MSV3drs111033203
GWAS Ctlgrs111033203
Max Magnitude0
ClinVar
Risk rs111033203(G;G)
Alt rs111033203(G;G)
Reference Rs111033203(A;A)
Significance Probable-Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene GJB2
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 1
HGVS NC_000013.10:g.20763527T>C
CLNSRC ClinVar
CLNACC RCV000037819.2,