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rs863224904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224904(G;G)
Make rs863224904(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position124482934
GeneNR5A1
is asnp
is mentioned by
dbSNPrs863224904
dbSNP (classic)rs863224904
ClinGenrs863224904
ebirs863224904
HLIrs863224904
Exacrs863224904
Gnomadrs863224904
Varsomers863224904
LitVarrs863224904
Maprs863224904
PheGenIrs863224904
Biobankrs863224904
1000 genomesrs863224904
hgdprs863224904
ensemblrs863224904
geneviewrs863224904
scholarrs863224904
googlers863224904
pharmgkbrs863224904
gwascentralrs863224904
openSNPrs863224904
23andMers863224904
SNPshotrs863224904
SNPdbers863224904
MSV3drs863224904
GWAS Ctlgrs863224904
Max Magnitude0
ClinVar
Risk rs863224904(G;G)
Alt rs863224904(G;G)
Reference Rs863224904(T;T)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127245213A>C
CLNSRC
CLNACC RCV000199384.1,