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rs121913114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6.6 Achondroplasia/dwarfism
Make rs121913114(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1801930
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913114
ebirs121913114
HLIrs121913114
Exacrs121913114
Varsomers121913114
Maprs121913114
PheGenIrs121913114
hapmaprs121913114
1000 genomesrs121913114
hgdprs121913114
ensemblrs121913114
gopubmedrs121913114
geneviewrs121913114
scholarrs121913114
googlers121913114
pharmgkbrs121913114
gwascentralrs121913114
openSNPrs121913114
23andMers121913114
23andMe allrs121913114
SNP Nexus

SNPshotrs121913114
SNPdbers121913114
MSV3drs121913114
GWAS Ctlgrs121913114
Max Magnitude6.6

rs121913114, also known as Ser279Cys or S279C, is a mutation in the FGFR3 gene on chromosome 4.

Acting in an autosomal dominant manner, the rs121913114(T) allele is considered to cause achondroplasia; see also OMIM 134934.0030

Note that 23andMe refers to this SNP as i5001264.

OMIM134934
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121913114(T;T)
Alt rs121913114(T;T)
Reference rs121913114(A;A)
Significance Pathogenic
Disease Achondroplasia Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Achondroplasia Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1803657A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017766.28, RCV000017767.28,