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rs606231205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231205(-;-)
Make rs606231205(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position124503378
GeneNR5A1
is asnp
is mentioned by
dbSNPrs606231205
dbSNP (classic)rs606231205
ClinGenrs606231205
ebirs606231205
HLIrs606231205
Exacrs606231205
Gnomadrs606231205
Varsomers606231205
LitVarrs606231205
Maprs606231205
PheGenIrs606231205
Biobankrs606231205
1000 genomesrs606231205
hgdprs606231205
ensemblrs606231205
geneviewrs606231205
scholarrs606231205
googlers606231205
pharmgkbrs606231205
gwascentralrs606231205
openSNPrs606231205
23andMers606231205
SNPshotrs606231205
SNPdbers606231205
MSV3drs606231205
GWAS Ctlgrs606231205
Max Magnitude0
ClinVar
Risk rs606231205(-;-)
Alt rs606231205(-;-)
Reference Rs606231205(C;C)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127265657delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013643.19,