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rs104894125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894125(A;A)
Make rs104894125(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124503089
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894125
dbSNP (classic)rs104894125
ClinGenrs104894125
ebirs104894125
HLIrs104894125
Exacrs104894125
Gnomadrs104894125
Varsomers104894125
LitVarrs104894125
Maprs104894125
PheGenIrs104894125
Biobankrs104894125
1000 genomesrs104894125
hgdprs104894125
ensemblrs104894125
geneviewrs104894125
scholarrs104894125
googlers104894125
pharmgkbrs104894125
gwascentralrs104894125
openSNPrs104894125
23andMers104894125
SNPshotrs104894125
SNPdbers104894125
MSV3drs104894125
GWAS Ctlgrs104894125
Max Magnitude0
OMIM184757
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894125(A;A)
Alt rs104894125(A;A)
Reference Rs104894125(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127265368C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013645.26,