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rs1057517508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517508(-;-)
Make rs1057517508(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position20189068
GeneGJB2
is asnp
is mentioned by
dbSNPrs1057517508
dbSNP (old)rs1057517508
ClinGenrs1057517508
ebirs1057517508
HLIrs1057517508
Exacrs1057517508
Gnomadrs1057517508
Varsomers1057517508
Maprs1057517508
PheGenIrs1057517508
Biobankrs1057517508
1000 genomesrs1057517508
hgdprs1057517508
ensemblrs1057517508
gopubmedrs1057517508
geneviewrs1057517508
scholarrs1057517508
googlers1057517508
pharmgkbrs1057517508
gwascentralrs1057517508
openSNPrs1057517508
23andMers1057517508
23andMe allrs1057517508
SNPshotrs1057517508
SNPdbers1057517508
MSV3drs1057517508
GWAS Ctlgrs1057517508
Max Magnitude0
ClinVar
Risk rs1057517508(-;-)
Alt rs1057517508(-;-)
Reference Rs1057517508(T;T)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763207delA
CLNSRC
CLNACC RCV000409815.1, RCV000411799.1,