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rs104894124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894124(A;A)
Make rs104894124(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124503353
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894124
ebirs104894124
HLIrs104894124
Exacrs104894124
Varsomers104894124
Maprs104894124
PheGenIrs104894124
hapmaprs104894124
1000 genomesrs104894124
hgdprs104894124
ensemblrs104894124
gopubmedrs104894124
geneviewrs104894124
scholarrs104894124
googlers104894124
pharmgkbrs104894124
gwascentralrs104894124
openSNPrs104894124
23andMers104894124
23andMe allrs104894124
SNP Nexus

SNPshotrs104894124
SNPdbers104894124
MSV3drs104894124
GWAS Ctlgrs104894124
Max Magnitude0
OMIM184757
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894124(A;A)
Alt rs104894124(A;A)
Reference rs104894124(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127265632C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013644.26,