rs727505369

Orientation

minus

Stabilized

minus

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

Make rs727505369(A;G)

Make rs727505369(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

38424624

Gene

FGFR1

is a	snp
is	mentioned by
dbSNP	rs727505369
dbSNP (classic)	rs727505369
ClinGen	rs727505369
ebi	rs727505369
HLI	rs727505369
Exac	rs727505369
Gnomad	rs727505369
Varsome	rs727505369
LitVar	rs727505369
Map	rs727505369
PheGenI	rs727505369
Biobank	rs727505369
1000 genomes	rs727505369
hgdp	rs727505369
ensembl	rs727505369
geneview	rs727505369
scholar	rs727505369
google	rs727505369
pharmgkb	rs727505369
gwascentral	rs727505369
openSNP	rs727505369
23andMe	rs727505369
SNPshot	rs727505369
SNPdbe	rs727505369
MSV3d	rs727505369
GWAS Ctlg	rs727505369

Max Magnitude

0

ClinVar
Risk	rs727505369(G;G)
Alt	rs727505369(G;G)
Reference	Rs727505369(A;A)
Significance	Probable-Pathogenic
Disease	Hypogonadotrophic hypogonadism Delayed puberty
Variation	info
Gene	FGFR1
CLNDBN	Hypogonadotrophic hypogonadism Delayed puberty
Reversed	1
HGVS	NC_000008.10:g.38282142T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000156951.1, RCV000156952.1,