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rs200163795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200163795(C;G)
Make rs200163795(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124500592
GeneNR5A1
is asnp
is mentioned by
dbSNPrs200163795
dbSNP (classic)rs200163795
ClinGenrs200163795
ebirs200163795
HLIrs200163795
Exacrs200163795
Gnomadrs200163795
Varsomers200163795
LitVarrs200163795
Maprs200163795
PheGenIrs200163795
Biobankrs200163795
1000 genomesrs200163795
hgdprs200163795
ensemblrs200163795
geneviewrs200163795
scholarrs200163795
googlers200163795
pharmgkbrs200163795
gwascentralrs200163795
openSNPrs200163795
23andMers200163795
SNPshotrs200163795
SNPdbers200163795
MSV3drs200163795
GWAS Ctlgrs200163795
GMAF0.002296
Max Magnitude0
ClinVar
Risk rs200163795(G;G)
Alt rs200163795(G;G)
Reference Rs200163795(C;C)
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.127262871C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013657.24, RCV000022775.24,