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rs200749741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200749741(A;A)
Make rs200749741(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124500574
GeneNR5A1
is asnp
is mentioned by
dbSNPrs200749741
dbSNP (classic)rs200749741
ClinGenrs200749741
ebirs200749741
HLIrs200749741
Exacrs200749741
Gnomadrs200749741
Varsomers200749741
LitVarrs200749741
Maprs200749741
PheGenIrs200749741
Biobankrs200749741
1000 genomesrs200749741
hgdprs200749741
ensemblrs200749741
geneviewrs200749741
scholarrs200749741
googlers200749741
pharmgkbrs200749741
gwascentralrs200749741
openSNPrs200749741
23andMers200749741
SNPshotrs200749741
SNPdbers200749741
MSV3drs200749741
GWAS Ctlgrs200749741
GMAF0.002296
Max Magnitude0
ClinVar
Risk rs200749741(A;A)
Alt rs200749741(A;A)
Reference Rs200749741(G;G)
Significance Pathogenic
Disease Premature ovarian failure 7 Spermatogenic failure 8
Variation info
Gene NR5A1
CLNDBN Premature ovarian failure 7 Spermatogenic failure 8
Reversed 0
HGVS NC_000009.11:g.127262853G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013657.24, RCV000022775.24,