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rs606231207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231207(-;-)
Make rs606231207(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position124500570
GeneNR5A1
is asnp
is mentioned by
dbSNPrs606231207
dbSNP (old)rs606231207
ClinGenrs606231207
ebirs606231207
HLIrs606231207
Exacrs606231207
Gnomadrs606231207
Varsomers606231207
Maprs606231207
PheGenIrs606231207
Biobankrs606231207
1000 genomesrs606231207
hgdprs606231207
ensemblrs606231207
gopubmedrs606231207
geneviewrs606231207
scholarrs606231207
googlers606231207
pharmgkbrs606231207
gwascentralrs606231207
openSNPrs606231207
23andMers606231207
23andMe allrs606231207
SNP Nexus

SNPshotrs606231207
SNPdbers606231207
MSV3drs606231207
GWAS Ctlgrs606231207
Max Magnitude0
ClinVar
Risk rs606231207(-;-)
Alt rs606231207(-;-)
Reference Rs606231207(G;G)
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.127262849delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013654.25, RCV000013655.24,