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rs121917705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917705(G;T)
Make rs121917705(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position69818738
GeneFGF3
is asnp
is mentioned by
dbSNPrs121917705
ebirs121917705
HLIrs121917705
Exacrs121917705
Varsomers121917705
Maprs121917705
PheGenIrs121917705
hapmaprs121917705
1000 genomesrs121917705
hgdprs121917705
ensemblrs121917705
gopubmedrs121917705
geneviewrs121917705
scholarrs121917705
googlers121917705
pharmgkbrs121917705
gwascentralrs121917705
openSNPrs121917705
23andMers121917705
23andMe allrs121917705
SNP Nexus

SNPshotrs121917705
SNPdbers121917705
MSV3drs121917705
GWAS Ctlgrs121917705
Max Magnitude0
OMIM164950
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121917705(T;T)
Alt rs121917705(T;T)
Reference rs121917705(G;G)
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.69633506C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014852.26,