rs386833514

Orientation

minus

Stabilized

minus

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

Make rs386833514(G;G)

Make rs386833514(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48982918

Gene

FSHR

is a	snp
is	mentioned by
dbSNP	rs386833514
dbSNP (classic)	rs386833514
ClinGen	rs386833514
ebi	rs386833514
HLI	rs386833514
Exac	rs386833514
Gnomad	rs386833514
Varsome	rs386833514
LitVar	rs386833514
Map	rs386833514
PheGenI	rs386833514
Biobank	rs386833514
1000 genomes	rs386833514
hgdp	rs386833514
ensembl	rs386833514
geneview	rs386833514
scholar	rs386833514
google	rs386833514
pharmgkb	rs386833514
gwascentral	rs386833514
openSNP	rs386833514
23andMe	rs386833514
SNPshot	rs386833514
SNPdbe	rs386833514
MSV3d	rs386833514
GWAS Ctlg	rs386833514

Max Magnitude

0

ClinVar
Risk	rs386833514(G;G)
Alt	rs386833514(G;G)
Reference	Rs386833514(T;T)
Significance	Probable-Pathogenic
Disease	Ovarian dysgenesis 1
Variation	info
Gene	FSHR
CLNDBN	Ovarian dysgenesis 1
Reversed	1
HGVS	NC_000002.11:g.49210057A>C
CLNSRC	ClinVar
CLNACC	RCV000049442.1,

[PMID 19172541] A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea.