rs121913483

Orientation

plus

Stabilized

plus

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

Make rs121913483(C;G)

Make rs121913483(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1801841

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs121913483
dbSNP (classic)	rs121913483
ClinGen	rs121913483
ebi	rs121913483
HLI	rs121913483
Exac	rs121913483
Gnomad	rs121913483
Varsome	rs121913483
LitVar	rs121913483
Map	rs121913483
PheGenI	rs121913483
Biobank	rs121913483
1000 genomes	rs121913483
hgdp	rs121913483
ensembl	rs121913483
geneview	rs121913483
scholar	rs121913483
google	rs121913483
pharmgkb	rs121913483
gwascentral	rs121913483
openSNP	rs121913483
23andMe	rs121913483
SNPshot	rs121913483
SNPdbe	rs121913483
MSV3d	rs121913483
GWAS Ctlg	rs121913483

Max Magnitude

0

OMIM	134934
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121913483(G;G) rs121913483(T;T)
Alt	rs121913483(G;G) rs121913483(T;T)
Reference	Rs121913483(C;C)
Significance	Pathogenic
Disease	Thanatophoric dysplasia type 1 Carcinoma of cervix Malignant tumor of urinary bladder Keratosis not provided Papillary renal cell carcinoma Squamous cell carcinoma of lung Carcinoma Bladder carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck
Variation	info
Gene	FGFR3
CLNDBN	Thanatophoric dysplasia type 1 Carcinoma of cervix Malignant tumor of urinary bladder Keratosis, seborrheic not provided Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of lung Carcinoma Bladder carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck
Reversed	0
HGVS	NC_000004.11:g.1803568C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017742.28, RCV000017743.5, RCV000017744.5, RCV000017745.5, RCV000297175.1, RCV000417690.1, RCV000420501.1, RCV000424421.1, RCV000431989.1, RCV000435437.1, RCV000438171.1,

[PMID 30616520] Interaction between TP53 and XRCC1 increases susceptibility to cervical cancer development: a case control study.