rs121909630

Orientation

minus

Stabilized

minus

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

Make rs121909630(G;T)

Make rs121909630(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

38428043

Gene

FGFR1

is a	snp
is	mentioned by
dbSNP	rs121909630
dbSNP (classic)	rs121909630
ClinGen	rs121909630
ebi	rs121909630
HLI	rs121909630
Exac	rs121909630
Gnomad	rs121909630
Varsome	rs121909630
LitVar	rs121909630
Map	rs121909630
PheGenI	rs121909630
Biobank	rs121909630
1000 genomes	rs121909630
hgdp	rs121909630
ensembl	rs121909630
geneview	rs121909630
scholar	rs121909630
google	rs121909630
pharmgkb	rs121909630
gwascentral	rs121909630
openSNP	rs121909630
23andMe	rs121909630
SNPshot	rs121909630
SNPdbe	rs121909630
MSV3d	rs121909630
GWAS Ctlg	rs121909630

Max Magnitude

0

OMIM	136350
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909630(T;T)
Alt	rs121909630(T;T)
Reference	Rs121909630(G;G)
Significance	Pathogenic
Disease	Hypogonadotropic hypogonadism 2 with anosmia
Variation	info
Gene	FGFR1
CLNDBN	Hypogonadotropic hypogonadism 2 with anosmia
Reversed	1
HGVS	NC_000008.10:g.38285561C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030929.28,