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rs267606809

From SNPedia

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


Make rs267606809(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1804384
GeneFGFR3
is asnp
is mentioned by
dbSNPrs267606809
ebirs267606809
HLIrs267606809
Exacrs267606809
Varsomers267606809
Maprs267606809
PheGenIrs267606809
hapmaprs267606809
1000 genomesrs267606809
hgdprs267606809
ensemblrs267606809
gopubmedrs267606809
geneviewrs267606809
scholarrs267606809
googlers267606809
pharmgkbrs267606809
gwascentralrs267606809
openSNPrs267606809
23andMers267606809
23andMe allrs267606809
SNP Nexus

SNPshotrs267606809
SNPdbers267606809
MSV3drs267606809
GWAS Ctlgrs267606809
Max Magnitude6.6

rs267606809, also known as Leu377Arg, L377R, or c.1130T>G, is a mutation in the FGFR3 gene on chromosome 4.

The rs267606809(G) allele has apparently only been seen once, in a severe form of achondroplasia and in cis with the rs28931614(A) G380R FGFR3 mutation; see also OMIM 134934.0027.

Note that 23andMe refers to this SNP as i5001267.


ClinVar
Risk rs267606809(G;G)
Alt rs267606809(G;G)
Reference rs267606809(T;T)
Significance Pathogenic
Disease Achondroplasia
Variation info
Gene FGFR3
CLNDBN Achondroplasia
Reversed 0
HGVS NC_000004.11:g.1806111T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017763.28,