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rs104894898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894898(A;A)
Make rs104894898(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30308773
GeneNR0B1
is asnp
is mentioned by
dbSNPrs104894898
dbSNP (classic)rs104894898
ClinGenrs104894898
ebirs104894898
HLIrs104894898
Exacrs104894898
Gnomadrs104894898
Varsomers104894898
LitVarrs104894898
Maprs104894898
PheGenIrs104894898
Biobankrs104894898
1000 genomesrs104894898
hgdprs104894898
ensemblrs104894898
geneviewrs104894898
scholarrs104894898
googlers104894898
pharmgkbrs104894898
gwascentralrs104894898
openSNPrs104894898
23andMers104894898
SNPshotrs104894898
SNPdbers104894898
MSV3drs104894898
GWAS Ctlgrs104894898
Max Magnitude0
OMIM300473
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104894898(A;A) rs104894898(T;T)
Alt rs104894898(A;A) rs104894898(T;T)
Reference Rs104894898(C;C)
Significance Pathogenic
Disease Congenital adrenal hypoplasia
Variation info
Gene NR0B1
CLNDBN Congenital adrenal hypoplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.30326890G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011715.6,