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rs387906690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906690(C;T)
Make rs387906690(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position124500568
GeneNR5A1
is asnp
is mentioned by
dbSNPrs387906690
dbSNP (classic)rs387906690
ClinGenrs387906690
ebirs387906690
HLIrs387906690
Exacrs387906690
Gnomadrs387906690
Varsomers387906690
LitVarrs387906690
Maprs387906690
PheGenIrs387906690
Biobankrs387906690
1000 genomesrs387906690
hgdprs387906690
ensemblrs387906690
geneviewrs387906690
scholarrs387906690
googlers387906690
pharmgkbrs387906690
gwascentralrs387906690
openSNPrs387906690
23andMers387906690
SNPshotrs387906690
SNPdbers387906690
MSV3drs387906690
GWAS Ctlgrs387906690
Max Magnitude0
ClinVar
Risk rs387906690(T;T)
Alt rs387906690(T;T)
Reference Rs387906690(C;C)
Significance Pathogenic
Disease Spermatogenic failure 8
Variation info
Gene NR5A1
CLNDBN Spermatogenic failure 8
Reversed 1
HGVS NC_000009.11:g.127262847G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022776.24,