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rs104894123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894123(A;A)
Make rs104894123(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position124503348
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894123
ebirs104894123
HLIrs104894123
Exacrs104894123
Varsomers104894123
Maprs104894123
PheGenIrs104894123
hapmaprs104894123
1000 genomesrs104894123
hgdprs104894123
ensemblrs104894123
gopubmedrs104894123
geneviewrs104894123
scholarrs104894123
googlers104894123
pharmgkbrs104894123
gwascentralrs104894123
openSNPrs104894123
23andMers104894123
23andMe allrs104894123
SNP Nexus

SNPshotrs104894123
SNPdbers104894123
MSV3drs104894123
GWAS Ctlgrs104894123
Max Magnitude0
OMIM184757
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894123(A,T;A,T)
Alt rs104894123(A,T;A,T)
Reference rs104894123(C;C)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127265627G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013642.24,