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rs121913105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6.6 Achondroplasia/dwarfism
Make rs121913105(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1806163
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913105
ebirs121913105
HLIrs121913105
Exacrs121913105
Varsomers121913105
Maprs121913105
PheGenIrs121913105
hapmaprs121913105
1000 genomesrs121913105
hgdprs121913105
ensemblrs121913105
gopubmedrs121913105
geneviewrs121913105
scholarrs121913105
googlers121913105
pharmgkbrs121913105
gwascentralrs121913105
openSNPrs121913105
23andMers121913105
23andMe allrs121913105
SNP Nexus

SNPshotrs121913105
SNPdbers121913105
MSV3drs121913105
GWAS Ctlgrs121913105
Max Magnitude6.6

rs121913105, also known as Lys650Met or K650M, is a mutation in the FGFR3 gene on chromosome 4.

Acting in an autosomal dominant manner, the rs121913105(T) allele is considered to cause achondroplasia, or at least a term called "SADDAN dysplasia"; see also OMIM 134934.0015.

Note that 23andMe refers to this SNP as i5001274 and i6010277.

OMIM134934
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121913105(C,T;C,T)
Alt rs121913105(C,T;C,T)
Reference rs121913105(A;A)
Significance Pathogenic
Disease Hypochondroplasia SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS Thanatophoric dysplasia type 1
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS Thanatophoric dysplasia type 1
Reversed 0
HGVS NC_000004.11:g.1807890A>C; NC_000004.11:g.1807890A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056100.1, RCV000017749.29, RCV000017750.30,