Rs104893911

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893911(C;C)
Make rs104893911(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position143300520
GeneNR3C1
is asnp
is mentioned by
dbSNPrs104893911
Exacrs104893911
PheGenIrs104893911
nextbiors104893911
hapmaprs104893911
1000 genomesrs104893911
hgdprs104893911
ensemblrs104893911
gopubmedrs104893911
geneviewrs104893911
scholarrs104893911
googlers104893911
pharmgkbrs104893911
gwascentralrs104893911
openSNPrs104893911
23andMers104893911
23andMe allrs104893911
SNP Nexus

SNPshotrs104893911
SNPdbers104893911
MSV3drs104893911
OMIM138040
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893911(C;C)
Alt rs104893911(C;C)
Reference rs104893911(T;T)
Significance Pathogenic
Disease Pseudohermaphroditism
Variation info
Gene NR3C1
CLNDBN Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance
Reversed 1
HGVS NC_000005.9:g.142680085A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017535.26,