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rs104894119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894119(A;A)
Make rs104894119(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position124500685
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894119
ebirs104894119
HLIrs104894119
Exacrs104894119
Varsomers104894119
Maprs104894119
PheGenIrs104894119
hapmaprs104894119
1000 genomesrs104894119
hgdprs104894119
ensemblrs104894119
gopubmedrs104894119
geneviewrs104894119
scholarrs104894119
googlers104894119
pharmgkbrs104894119
gwascentralrs104894119
openSNPrs104894119
23andMers104894119
23andMe allrs104894119
SNP Nexus

SNPshotrs104894119
SNPdbers104894119
MSV3drs104894119
GWAS Ctlgrs104894119
Max Magnitude0
OMIM184757
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894119(A;A)
Alt rs104894119(A;A)
Reference rs104894119(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127262964C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013640.26,