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rs104894900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894900(G;G)
Make rs104894900(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308226
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894900
dbSNP (classic)rs104894900
ClinGenrs104894900
ebirs104894900
HLIrs104894900
Exacrs104894900
Gnomadrs104894900
Varsomers104894900
LitVarrs104894900
Maprs104894900
PheGenIrs104894900
Biobankrs104894900
1000 genomesrs104894900
hgdprs104894900
ensemblrs104894900
geneviewrs104894900
scholarrs104894900
googlers104894900
pharmgkbrs104894900
gwascentralrs104894900
openSNPrs104894900
23andMers104894900
SNPshotrs104894900
SNPdbers104894900
MSV3drs104894900
GWAS Ctlgrs104894900
Max Magnitude0
OMIM300473
Desc
Variant0025
Relatedalso
ClinVar
Risk rs104894900(G;G)
Alt rs104894900(G;G)
Reference Rs104894900(T;T)
Significance Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30326343A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011720.2,