Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833514(G;G)
Make rs386833514(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48982918
GeneFSHR
is asnp
is mentioned by
dbSNPrs386833514
ebirs386833514
HLIrs386833514
Exacrs386833514
Varsomers386833514
Maprs386833514
PheGenIrs386833514
hapmaprs386833514
1000 genomesrs386833514
hgdprs386833514
ensemblrs386833514
gopubmedrs386833514
geneviewrs386833514
scholarrs386833514
googlers386833514
pharmgkbrs386833514
gwascentralrs386833514
openSNPrs386833514
23andMers386833514
23andMe allrs386833514
SNP Nexus

SNPshotrs386833514
SNPdbers386833514
MSV3drs386833514
GWAS Ctlgrs386833514
Max Magnitude0
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.