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rs775441984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs775441984(C;T)
Make rs775441984(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position124503172
GeneNR5A1
is asnp
is mentioned by
dbSNPrs775441984
dbSNP (classic)rs775441984
ClinGenrs775441984
ebirs775441984
HLIrs775441984
Exacrs775441984
Gnomadrs775441984
Varsomers775441984
LitVarrs775441984
Maprs775441984
PheGenIrs775441984
Biobankrs775441984
1000 genomesrs775441984
hgdprs775441984
ensemblrs775441984
geneviewrs775441984
scholarrs775441984
googlers775441984
pharmgkbrs775441984
gwascentralrs775441984
openSNPrs775441984
23andMers775441984
SNPshotrs775441984
SNPdbers775441984
MSV3drs775441984
GWAS Ctlgrs775441984
Max Magnitude0
ClinVar
Risk rs775441984(A;A) rs775441984(T;T)
Alt rs775441984(A;A) rs775441984(T;T)
Reference Rs775441984(C;C)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 0
HGVS NC_000009.11:g.127265451C>A
CLNSRC
CLNACC RCV000197157.1,