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rs104894118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894118(G;T)
Make rs104894118(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position124500196
GeneNR5A1
is asnp
is mentioned by
dbSNPrs104894118
ebirs104894118
HLIrs104894118
Exacrs104894118
Varsomers104894118
Maprs104894118
PheGenIrs104894118
hapmaprs104894118
1000 genomesrs104894118
hgdprs104894118
ensemblrs104894118
gopubmedrs104894118
geneviewrs104894118
scholarrs104894118
googlers104894118
pharmgkbrs104894118
gwascentralrs104894118
openSNPrs104894118
23andMers104894118
23andMe allrs104894118
SNP Nexus

SNPshotrs104894118
SNPdbers104894118
MSV3drs104894118
GWAS Ctlgrs104894118
Max Magnitude0
OMIM184757
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894118(T;T)
Alt rs104894118(T;T)
Reference rs104894118(G;G)
Significance Pathogenic
Disease Adrenocortical insufficiency
Variation info
Gene NR5A1
CLNDBN Adrenocortical insufficiency
Reversed 1
HGVS NC_000009.11:g.127262475C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013639.17,