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

rs386833511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833511(C;T)
Make rs386833511(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48963097
GeneFSHR
is asnp
is mentioned by
dbSNPrs386833511
ebirs386833511
HLIrs386833511
Exacrs386833511
Varsomers386833511
Maprs386833511
PheGenIrs386833511
hapmaprs386833511
1000 genomesrs386833511
hgdprs386833511
ensemblrs386833511
gopubmedrs386833511
geneviewrs386833511
scholarrs386833511
googlers386833511
pharmgkbrs386833511
gwascentralrs386833511
openSNPrs386833511
23andMers386833511
23andMe allrs386833511
SNP Nexus

SNPshotrs386833511
SNPdbers386833511
MSV3drs386833511
GWAS Ctlgrs386833511
Max Magnitude0
ClinVar
Risk rs386833511(T;T)
Alt rs386833511(T;T)
Reference rs386833511(C;C)
Significance Probable-Pathogenic
Disease Ovarian dysgenesis 1
Variation info
Gene FSHR
CLNDBN Ovarian dysgenesis 1
Reversed 1
HGVS NC_000002.11:g.49190236G>A
CLNSRC ClinVar
CLNACC RCV000049440.1,


[PMID 20237833OA-icon.png] Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.