rs267606809

Orientation

plus

Stabilized

plus

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

Make rs267606809(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1804384

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs267606809
dbSNP (classic)	rs267606809
ClinGen	rs267606809
ebi	rs267606809
HLI	rs267606809
Exac	rs267606809
Gnomad	rs267606809
Varsome	rs267606809
LitVar	rs267606809
Map	rs267606809
PheGenI	rs267606809
Biobank	rs267606809
1000 genomes	rs267606809
hgdp	rs267606809
ensembl	rs267606809
geneview	rs267606809
scholar	rs267606809
google	rs267606809
pharmgkb	rs267606809
gwascentral	rs267606809
openSNP	rs267606809
23andMe	rs267606809
SNPshot	rs267606809
SNPdbe	rs267606809
MSV3d	rs267606809
GWAS Ctlg	rs267606809

Max Magnitude

6.6

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,