rs121913114

Orientation

plus

Stabilized

plus

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

Make rs121913114(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1801930

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs121913114
dbSNP (classic)	rs121913114
ClinGen	rs121913114
ebi	rs121913114
HLI	rs121913114
Exac	rs121913114
Gnomad	rs121913114
Varsome	rs121913114
LitVar	rs121913114
Map	rs121913114
PheGenI	rs121913114
Biobank	rs121913114
1000 genomes	rs121913114
hgdp	rs121913114
ensembl	rs121913114
geneview	rs121913114
scholar	rs121913114
google	rs121913114
pharmgkb	rs121913114
gwascentral	rs121913114
openSNP	rs121913114
23andMe	rs121913114
SNPshot	rs121913114
SNPdbe	rs121913114
MSV3d	rs121913114
GWAS Ctlg	rs121913114

Max Magnitude

6.6

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.

OMIM	134934
Desc
Variant	0030
Related	also

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,