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rs386833513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833513(C;G)
Make rs386833513(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48963020
GeneFSHR
is asnp
is mentioned by
dbSNPrs386833513
ebirs386833513
HLIrs386833513
Exacrs386833513
Varsomers386833513
Maprs386833513
PheGenIrs386833513
hapmaprs386833513
1000 genomesrs386833513
hgdprs386833513
ensemblrs386833513
gopubmedrs386833513
geneviewrs386833513
scholarrs386833513
googlers386833513
pharmgkbrs386833513
gwascentralrs386833513
openSNPrs386833513
23andMers386833513
23andMe allrs386833513
SNP Nexus

SNPshotrs386833513
SNPdbers386833513
MSV3drs386833513
GWAS Ctlgrs386833513
Max Magnitude0
ClinVar
Risk rs386833513(G;G)
Alt rs386833513(G;G)
Reference rs386833513(C;C)
Significance Probable-Pathogenic
Disease Ovarian dysgenesis 1
Variation info
Gene FSHR
CLNDBN Ovarian dysgenesis 1
Reversed 1
HGVS NC_000002.11:g.49190159G>C
CLNSRC ClinVar
CLNACC RCV000049441.1,


[PMID 10551778] New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.