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rs121917703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917703(C;C)
Make rs121917703(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position69810559
GeneFGF3
is asnp
is mentioned by
dbSNPrs121917703
ebirs121917703
HLIrs121917703
Exacrs121917703
Varsomers121917703
Maprs121917703
PheGenIrs121917703
hapmaprs121917703
1000 genomesrs121917703
hgdprs121917703
ensemblrs121917703
gopubmedrs121917703
geneviewrs121917703
scholarrs121917703
googlers121917703
pharmgkbrs121917703
gwascentralrs121917703
openSNPrs121917703
23andMers121917703
23andMe allrs121917703
SNP Nexus

SNPshotrs121917703
SNPdbers121917703
MSV3drs121917703
GWAS Ctlgrs121917703
Max Magnitude0
OMIM164950
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917703(C;C)
Alt rs121917703(C;C)
Reference rs121917703(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.69625327A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014849.25,