rs3213849

Orientation

plus

Stabilized

plus

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

Make rs3213849(A;A)

Make rs3213849(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

38468528

Gene	FGFR1, LOC107986937

is a	snp
is	mentioned by
dbSNP	rs3213849
dbSNP (classic)	rs3213849
ClinGen	rs3213849
ebi	rs3213849
HLI	rs3213849
Exac	rs3213849
Gnomad	rs3213849
Varsome	rs3213849
LitVar	rs3213849
Map	rs3213849
PheGenI	rs3213849
Biobank	rs3213849
1000 genomes	rs3213849
hgdp	rs3213849
ensembl	rs3213849
geneview	rs3213849
scholar	rs3213849
google	rs3213849
pharmgkb	rs3213849
gwascentral	rs3213849
openSNP	rs3213849
23andMe	rs3213849
SNPshot	rs3213849
SNPdbe	rs3213849
MSV3d	rs3213849
GWAS Ctlg	rs3213849

GMAF

0.3159

Max Magnitude

0

[PMID 23070782] Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations

ClinVar
Risk	rs3213849(A;A)
Alt	rs3213849(A;A)
Reference	Rs3213849(G;G)
Significance	Non-pathogenic
Disease	Craniosynostosis Hypogonadism with anosmia Nonsyndromic Trigonocephaly Pfeiffer syndrome Osteoglophonic dysplasia
Variation	info
Gene	FGFR1
CLNDBN	Craniosynostosis Hypogonadism with anosmia Nonsyndromic Trigonocephaly Pfeiffer syndrome Osteoglophonic dysplasia
Reversed	0
HGVS	NC_000008.10:g.38326046G>A
CLNSRC
CLNACC	RCV000275562.1, RCV000276380.1, RCV000326643.1, RCV000330645.1, RCV000370929.1,