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rs104894126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894126(A;A)
Make rs104894126(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124500689
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894126
dbSNP (classic)rs104894126
ClinGenrs104894126
ebirs104894126
HLIrs104894126
Exacrs104894126
Gnomadrs104894126
Varsomers104894126
LitVarrs104894126
Maprs104894126
PheGenIrs104894126
Biobankrs104894126
1000 genomesrs104894126
hgdprs104894126
ensemblrs104894126
geneviewrs104894126
scholarrs104894126
googlers104894126
pharmgkbrs104894126
gwascentralrs104894126
openSNPrs104894126
23andMers104894126
SNPshotrs104894126
SNPdbers104894126
MSV3drs104894126
GWAS Ctlgrs104894126
Max Magnitude0
OMIM184757
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894126(A;A)
Alt rs104894126(A;A)
Reference Rs104894126(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127262968C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013646.24,