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rs606231206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231206(-;-)
Make rs606231206(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position124500294
GeneNR5A1
is asnp
is mentioned by
dbSNPrs606231206
dbSNP (classic)rs606231206
ClinGenrs606231206
ebirs606231206
HLIrs606231206
Exacrs606231206
Gnomadrs606231206
Varsomers606231206
LitVarrs606231206
Maprs606231206
PheGenIrs606231206
Biobankrs606231206
1000 genomesrs606231206
hgdprs606231206
ensemblrs606231206
geneviewrs606231206
scholarrs606231206
googlers606231206
pharmgkbrs606231206
gwascentralrs606231206
openSNPrs606231206
23andMers606231206
SNPshotrs606231206
SNPdbers606231206
MSV3drs606231206
GWAS Ctlgrs606231206
Max Magnitude0
ClinVar
Risk rs606231206(-;-)
Alt rs606231206(-;-)
Reference Rs606231206(C;C)
Significance Pathogenic
Disease 46 Premature ovarian failure 7
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3 Premature ovarian failure 7
Reversed 1
HGVS NC_000009.11:g.127262573delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013648.24, RCV000013649.19,