rs121913482

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121913482(C;T)

Make rs121913482(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1801837

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs121913482
dbSNP (classic)	rs121913482
ClinGen	rs121913482
ebi	rs121913482
HLI	rs121913482
Exac	rs121913482
Gnomad	rs121913482
Varsome	rs121913482
LitVar	rs121913482
Map	rs121913482
PheGenI	rs121913482
Biobank	rs121913482
1000 genomes	rs121913482
hgdp	rs121913482
ensembl	rs121913482
geneview	rs121913482
scholar	rs121913482
google	rs121913482
pharmgkb	rs121913482
gwascentral	rs121913482
openSNP	rs121913482
23andMe	rs121913482
SNPshot	rs121913482
SNPdbe	rs121913482
MSV3d	rs121913482
GWAS Ctlg	rs121913482

Max Magnitude

0

OMIM	134934
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913482(T;T)
Alt	rs121913482(T;T)
Reference	Rs121913482(C;C)
Significance	Other
Disease	Thanatophoric dysplasia type 1 Multiple myeloma Skeletal dysplasia with acanthosis nigricans Epidermal nevus Keratosis not provided Bell-shaped thorax Bowed humerus Disproportionate short-limb short stature Femoral bowing Growth delay Lethal short-limbed short stature Lower limb undergrowth Narrow chest Short ribs Short stature Skeletal dysplasia Small for gestational age Upper limb undergrowth Adenocarcinoma of lung Carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of lung Squamous cell carcinoma of the head and neck
Variation	info
Gene	FGFR3
CLNDBN	Thanatophoric dysplasia type 1 Multiple myeloma Skeletal dysplasia with acanthosis nigricans Epidermal nevus Keratosis, seborrheic not provided Bell-shaped thorax Bowed humerus Disproportionate short-limb short stature Femoral bowing Growth delay Lethal short-limbed short stature Lower limb undergrowth Narrow chest Short ribs Short stature Skeletal dysplasia Small for gestational age Upper limb undergrowth Adenocarcinoma of lung Carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of lung Squamous cell carcinoma of the head and neck
Reversed	0
HGVS	NC_000004.11:g.1803564C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017731.29, RCV000017732.6, RCV000017733.28, RCV000017734.5, RCV000017735.5, RCV000327823.1, RCV000414822.1, RCV000420041.1, RCV000425165.1, RCV000425802.1, RCV000432622.1, RCV000443913.1,