rs28931615

Orientation

plus

Stabilized

plus

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

Make rs28931615(A;A)

Make rs28931615(A;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1804426

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs28931615
dbSNP (classic)	rs28931615
ClinGen	rs28931615
ebi	rs28931615
HLI	rs28931615
Exac	rs28931615
Gnomad	rs28931615
Varsome	rs28931615
LitVar	rs28931615
Map	rs28931615
PheGenI	rs28931615
Biobank	rs28931615
1000 genomes	rs28931615
hgdp	rs28931615
ensembl	rs28931615
geneview	rs28931615
scholar	rs28931615
google	rs28931615
pharmgkb	rs28931615
gwascentral	rs28931615
openSNP	rs28931615
23andMe	rs28931615
SNPshot	rs28931615
SNPdbe	rs28931615
MSV3d	rs28931615
GWAS Ctlg	rs28931615

Max Magnitude

0

OMIM	134934
Desc	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Variant	0011
Related	also

ClinVar
Risk	rs28931615(A;A)
Alt	rs28931615(A;A)
Reference	Rs28931615(C;C)
Significance	Pathogenic
Disease	Crouzon syndrome with acanthosis nigricans Craniosynostosis not provided Carcinoma
Variation	info
Gene	FGFR3
CLNDBN	Crouzon syndrome with acanthosis nigricans Craniosynostosis not provided Carcinoma
Reversed	0
HGVS	NC_000004.11:g.1806153C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017726.24, RCV000194803.1, RCV000414319.1, RCV000439126.1,