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rs727504302

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504302(A;C)
Make rs727504302(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189343
GeneGJB2
is asnp
is mentioned by
dbSNPrs727504302
ebirs727504302
HLIrs727504302
Exacrs727504302
Varsomers727504302
Maprs727504302
PheGenIrs727504302
hapmaprs727504302
1000 genomesrs727504302
hgdprs727504302
ensemblrs727504302
gopubmedrs727504302
geneviewrs727504302
scholarrs727504302
googlers727504302
pharmgkbrs727504302
gwascentralrs727504302
openSNPrs727504302
23andMers727504302
23andMe allrs727504302
SNP Nexus

SNPshotrs727504302
SNPdbers727504302
MSV3drs727504302
GWAS Ctlgrs727504302
Max Magnitude0
ClinVar
Risk rs727504302(C;C)
Alt rs727504302(C;C)
Reference rs727504302(A;A)
Significance Probable-Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763482T>G
CLNSRC
CLNACC RCV000154345.1,