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rs121917704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917704(C;T)
Make rs121917704(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position69816334
GeneFGF3
is asnp
is mentioned by
dbSNPrs121917704
ebirs121917704
HLIrs121917704
Exacrs121917704
Varsomers121917704
Maprs121917704
PheGenIrs121917704
hapmaprs121917704
1000 genomesrs121917704
hgdprs121917704
ensemblrs121917704
gopubmedrs121917704
geneviewrs121917704
scholarrs121917704
googlers121917704
pharmgkbrs121917704
gwascentralrs121917704
openSNPrs121917704
23andMers121917704
23andMe allrs121917704
SNP Nexus

SNPshotrs121917704
SNPdbers121917704
MSV3drs121917704
GWAS Ctlgrs121917704
Max Magnitude0
OMIM164950
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917704(T;T)
Alt rs121917704(T;T)
Reference rs121917704(C;C)
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.69631102G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014850.23,