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rs386833510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833510(C;G)
Make rs386833510(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48963778
GeneFSHR
is asnp
is mentioned by
dbSNPrs386833510
ebirs386833510
HLIrs386833510
Exacrs386833510
Varsomers386833510
Maprs386833510
PheGenIrs386833510
hapmaprs386833510
1000 genomesrs386833510
hgdprs386833510
ensemblrs386833510
gopubmedrs386833510
geneviewrs386833510
scholarrs386833510
googlers386833510
pharmgkbrs386833510
gwascentralrs386833510
openSNPrs386833510
23andMers386833510
23andMe allrs386833510
SNP Nexus

SNPshotrs386833510
SNPdbers386833510
MSV3drs386833510
GWAS Ctlgrs386833510
Max Magnitude0
ClinVar
Risk rs386833510(G;G)
Alt rs386833510(G;G)
Reference rs386833510(C;C)
Significance Probable-Pathogenic
Disease Ovarian dysgenesis 1
Variation info
Gene FSHR
CLNDBN Ovarian dysgenesis 1
Reversed 1
HGVS NC_000002.11:g.49190917G>C
CLNSRC ClinVar
CLNACC RCV000049439.1,


[PMID 12571157] A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.