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rs1057517521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057517521(-;-)
Make rs1057517521(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position20189006
GeneGJB2
is asnp
is mentioned by
dbSNPrs1057517521
dbSNP (classic)rs1057517521
ClinGenrs1057517521
ebirs1057517521
HLIrs1057517521
Exacrs1057517521
Gnomadrs1057517521
Varsomers1057517521
LitVarrs1057517521
Maprs1057517521
PheGenIrs1057517521
Biobankrs1057517521
1000 genomesrs1057517521
hgdprs1057517521
ensemblrs1057517521
geneviewrs1057517521
scholarrs1057517521
googlers1057517521
pharmgkbrs1057517521
gwascentralrs1057517521
openSNPrs1057517521
23andMers1057517521
23andMe allrs1057517521
SNPshotrs1057517521
SNPdbers1057517521
MSV3drs1057517521
GWAS Ctlgrs1057517521
Max Magnitude0
ClinVar
Risk rs1057517521(-;-)
Alt rs1057517521(-;-)
Reference Rs1057517521(CA;CA)
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.20763145_20763146delTG
CLNSRC
CLNACC RCV000409438.1, RCV000411838.1,