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rs28931614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.6 Achondroplasia/dwarfism
(C;G) 6.6 Achondroplasia/dwarfism
(G;G) 0 common in clinvar


Make rs28931614(A;A)
ReferenceGRCh38 38.1/141
Chromosome4
Position1804392
GeneFGFR3
is asnp
is mentioned by
dbSNPrs28931614
ebirs28931614
HLIrs28931614
Exacrs28931614
Varsomers28931614
Maprs28931614
PheGenIrs28931614
hapmaprs28931614
1000 genomesrs28931614
hgdprs28931614
ensemblrs28931614
gopubmedrs28931614
geneviewrs28931614
scholarrs28931614
googlers28931614
pharmgkbrs28931614
gwascentralrs28931614
openSNPrs28931614
23andMers28931614
23andMe allrs28931614
SNP Nexus

SNPshotrs28931614
SNPdbers28931614
MSV3drs28931614
GWAS Ctlgrs28931614
Max Magnitude6.6

rs28931614, also known as G380R, Gly380Arg, and c.1138G>A, is a SNP in the fibroblast growth factor receptor 3 FGFR3 gene on chromosome 4. As an autosomal dominant mutation, the rs28931614(A) allele causes achondroplasia, a form of dwarfism.

A more rare change at this SNP, c.1138G>C (rather than G>A), also leads to achondroplasia; it is referred to as i6010295 by 23andMe.

OMIM134934
DescACHONDROPLASIA
Variant0001
Relatedalso
Neighborrs28931615
Distance34


ClinVar
Risk rs28931614(A,C;A,C)
Alt rs28931614(A,C;A,C)
Reference rs28931614(G;G)
Significance Pathogenic
Disease Achondroplasia Epidermal nevus
Variation info
Gene FGFR3
CLNDBN Achondroplasia Epidermal nevus
Reversed 0
HGVS NC_000004.11:g.1806119G>A; NC_000004.11:g.1806119G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017724.24, RCV000017763.28, RCV000029207.5, RCV000017725.28,