Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917706(C;C)
Make rs121917706(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position69818917
GeneFGF3
is asnp
is mentioned by
dbSNPrs121917706
ebirs121917706
HLIrs121917706
Exacrs121917706
Varsomers121917706
Maprs121917706
PheGenIrs121917706
hapmaprs121917706
1000 genomesrs121917706
hgdprs121917706
ensemblrs121917706
gopubmedrs121917706
geneviewrs121917706
scholarrs121917706
googlers121917706
pharmgkbrs121917706
gwascentralrs121917706
openSNPrs121917706
23andMers121917706
23andMe allrs121917706
SNP Nexus

SNPshotrs121917706
SNPdbers121917706
MSV3drs121917706
GWAS Ctlgrs121917706
Max Magnitude0
OMIM164950
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121917706(C;C)
Alt rs121917706(C;C)
Reference rs121917706(T;T)
Significance Pathogenic
Disease Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Variation info
Gene FGF3
CLNDBN Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Reversed 1
HGVS NC_000011.9:g.69633685A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014853.26,