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rs1057517519

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517519(C;C)
Make rs1057517519(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position20189523
GeneGJB2
is asnp
is mentioned by
dbSNPrs1057517519
dbSNP (old)rs1057517519
ClinGenrs1057517519
ebirs1057517519
HLIrs1057517519
Exacrs1057517519
Gnomadrs1057517519
Varsomers1057517519
Maprs1057517519
PheGenIrs1057517519
Biobankrs1057517519
1000 genomesrs1057517519
hgdprs1057517519
ensemblrs1057517519
gopubmedrs1057517519
geneviewrs1057517519
scholarrs1057517519
googlers1057517519
pharmgkbrs1057517519
gwascentralrs1057517519
openSNPrs1057517519
23andMers1057517519
23andMe allrs1057517519
SNPshotrs1057517519
SNPdbers1057517519
MSV3drs1057517519
GWAS Ctlgrs1057517519
Max Magnitude0
ClinVar
Risk rs1057517519(C;C)
Alt rs1057517519(C;C)
Reference Rs1057517519(T;T)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763662A>G
CLNSRC
CLNACC RCV000410601.1, RCV000411693.1,