rs121913103

Orientation

plus

Stabilized

plus

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

Make rs121913103(A;T)

Make rs121913103(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1807262

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs121913103
dbSNP (classic)	rs121913103
ClinGen	rs121913103
ebi	rs121913103
HLI	rs121913103
Exac	rs121913103
Gnomad	rs121913103
Varsome	rs121913103
LitVar	rs121913103
Map	rs121913103
PheGenI	rs121913103
Biobank	rs121913103
1000 genomes	rs121913103
hgdp	rs121913103
ensembl	rs121913103
geneview	rs121913103
scholar	rs121913103
google	rs121913103
pharmgkb	rs121913103
gwascentral	rs121913103
openSNP	rs121913103
23andMe	rs121913103
SNPshot	rs121913103
SNPdbe	rs121913103
MSV3d	rs121913103
GWAS Ctlg	rs121913103

Max Magnitude

0

ClinVar
Risk	rs121913103(C;C) rs121913103(G;G) rs121913103(T;T)
Alt	rs121913103(C;C) rs121913103(G;G) rs121913103(T;T)
Reference	Rs121913103(A;A)
Significance	Pathogenic
Disease	Thanatophoric dysplasia type 1
Variation	info
Gene	FGFR3
CLNDBN	Thanatophoric dysplasia type 1
Reversed	0
HGVS	NC_000004.11:g.1808989A>C; NC_000004.11:g.1808989A>G; NC_000004.11:g.1808989A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055765.1, RCV000055766.1, RCV000017739.24,