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rs386833515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833515(A;T)
Make rs386833515(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48968881
GeneFSHR
is asnp
is mentioned by
dbSNPrs386833515
ebirs386833515
HLIrs386833515
Exacrs386833515
Varsomers386833515
Maprs386833515
PheGenIrs386833515
hapmaprs386833515
1000 genomesrs386833515
hgdprs386833515
ensemblrs386833515
gopubmedrs386833515
geneviewrs386833515
scholarrs386833515
googlers386833515
pharmgkbrs386833515
gwascentralrs386833515
openSNPrs386833515
23andMers386833515
23andMe allrs386833515
SNP Nexus

SNPshotrs386833515
SNPdbers386833515
MSV3drs386833515
GWAS Ctlgrs386833515
Max Magnitude0
ClinVar
Risk rs386833515(T;T)
Alt rs386833515(T;T)
Reference rs386833515(A;A)
Significance Probable-Pathogenic
Disease Ovarian dysgenesis 1
Variation info
Gene FSHR
CLNDBN Ovarian dysgenesis 1
Reversed 1
HGVS NC_000002.11:g.49196020T>A
CLNSRC ClinVar
CLNACC RCV000049443.1,


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