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rs104894120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894120(A;A)
Make rs104894120(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position124482834
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894120
dbSNP (classic)rs104894120
ClinGenrs104894120
ebirs104894120
HLIrs104894120
Exacrs104894120
Gnomadrs104894120
Varsomers104894120
LitVarrs104894120
Maprs104894120
PheGenIrs104894120
Biobankrs104894120
1000 genomesrs104894120
hgdprs104894120
ensemblrs104894120
geneviewrs104894120
scholarrs104894120
googlers104894120
pharmgkbrs104894120
gwascentralrs104894120
openSNPrs104894120
23andMers104894120
SNPshotrs104894120
SNPdbers104894120
MSV3drs104894120
GWAS Ctlgrs104894120
Max Magnitude0
OMIM184757
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894120(A;A)
Alt rs104894120(A;A)
Reference Rs104894120(T;T)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127245113A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013647.19,