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rs1057517491

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517491(-;-)
Make rs1057517491(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position20189448
GeneGJB2
is asnp
is mentioned by
dbSNPrs1057517491
dbSNP (old)rs1057517491
ClinGenrs1057517491
ebirs1057517491
HLIrs1057517491
Exacrs1057517491
Gnomadrs1057517491
Varsomers1057517491
Maprs1057517491
PheGenIrs1057517491
Biobankrs1057517491
1000 genomesrs1057517491
hgdprs1057517491
ensemblrs1057517491
gopubmedrs1057517491
geneviewrs1057517491
scholarrs1057517491
googlers1057517491
pharmgkbrs1057517491
gwascentralrs1057517491
openSNPrs1057517491
23andMers1057517491
23andMe allrs1057517491
SNPshotrs1057517491
SNPdbers1057517491
MSV3drs1057517491
GWAS Ctlgrs1057517491
Max Magnitude0
ClinVar
Risk rs1057517491(-;-)
Alt rs1057517491(-;-)
Reference Rs1057517491(G;G)
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.20763587delC
CLNSRC
CLNACC RCV000409450.1, RCV000410947.1,