rs727505373

Orientation

minus

Stabilized

minus

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

Make rs727505373(A;G)

Make rs727505373(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

38429744

Gene

FGFR1

is a	snp
is	mentioned by
dbSNP	rs727505373
dbSNP (classic)	rs727505373
ClinGen	rs727505373
ebi	rs727505373
HLI	rs727505373
Exac	rs727505373
Gnomad	rs727505373
Varsome	rs727505373
LitVar	rs727505373
Map	rs727505373
PheGenI	rs727505373
Biobank	rs727505373
1000 genomes	rs727505373
hgdp	rs727505373
ensembl	rs727505373
geneview	rs727505373
scholar	rs727505373
google	rs727505373
pharmgkb	rs727505373
gwascentral	rs727505373
openSNP	rs727505373
23andMe	rs727505373
SNPshot	rs727505373
SNPdbe	rs727505373
MSV3d	rs727505373
GWAS Ctlg	rs727505373

Max Magnitude

0

ClinVar
Risk	rs727505373(G;G)
Alt	rs727505373(G;G)
Reference	Rs727505373(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.38287262T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000156961.1, RCV000156962.1,