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rs121918353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918353(A;A)
Make rs121918353(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10656452
GeneJAG1
is asnp
is mentioned by
dbSNPrs121918353
ebirs121918353
HLIrs121918353
Exacrs121918353
Varsomers121918353
Maprs121918353
PheGenIrs121918353
hapmaprs121918353
1000 genomesrs121918353
hgdprs121918353
ensemblrs121918353
gopubmedrs121918353
geneviewrs121918353
scholarrs121918353
googlers121918353
pharmgkbrs121918353
gwascentralrs121918353
openSNPrs121918353
23andMers121918353
23andMe allrs121918353
SNP Nexus

SNPshotrs121918353
SNPdbers121918353
MSV3drs121918353
GWAS Ctlgrs121918353
Max Magnitude0
OMIM601920
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918353(A;A)
Alt rs121918353(A;A)
Reference rs121918353(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene JAG1
CLNDBN Deafness, congenital heart defects, and posterior embryotoxon
Reversed 1
HGVS NC_000020.10:g.10637100C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008065.3,