rs80053154

Orientation

minus

Stabilized

minus

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

Make rs80053154(C;C)

Make rs80053154(C;T)

Reference

GRCh38 38.1/142

Chromosome

4

Position

1805636

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs80053154
dbSNP (classic)	rs80053154
ClinGen	rs80053154
ebi	rs80053154
HLI	rs80053154
Exac	rs80053154
Gnomad	rs80053154
Varsome	rs80053154
LitVar	rs80053154
Map	rs80053154
PheGenI	rs80053154
Biobank	rs80053154
1000 genomes	rs80053154
hgdp	rs80053154
ensembl	rs80053154
geneview	rs80053154
scholar	rs80053154
google	rs80053154
pharmgkb	rs80053154
gwascentral	rs80053154
openSNP	rs80053154
23andMe	rs80053154
SNPshot	rs80053154
SNPdbe	rs80053154
MSV3d	rs80053154
GWAS Ctlg	rs80053154

Merged from

Rs121913108

Max Magnitude

0

OMIM	134934
Desc
Variant	0019
Related	also

ClinVar
Risk	rs80053154(C;C)
Alt	rs80053154(C;C)
Reference	Rs80053154(T;T)
Significance	Pathogenic
Disease	Hypochondroplasia
Variation	info
Gene	FGFR3
CLNDBN	Hypochondroplasia
Reversed	1
HGVS	NC_000004.11:g.1807363A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017754.28,