rs5525

Homo sapiens
A>C / A>G
NR3C2 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0110 (3320/29978,GnomAD)
A==0118 (3450/29118,TOPMED)
G=0101 (1325/13006,GO-ESP)
A==0108 (541/5008,1000G)
A==0110 (425/3854,ALSPAC)
A==0110 (408/3708,TWINSUK)
chr4:148435364 (GRCh38.p7) (4q31.23)
ND
GWASdb2
5   publication(s)
See rs on genome
7 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.148435364A>C
GRCh38.p7 chr 4NC_000004.12:g.148435364A>G
GRCh37.p13 chr 4NC_000004.11:g.149356516A>C
GRCh37.p13 chr 4NC_000004.11:g.149356516A>G
NR3C2 RefSeqGeneNG_013350.1:g.12157T>G
NR3C2 RefSeqGeneNG_013350.1:g.12157T>C

Gene: NR3C2, nuclear receptor subfamily 3 group C member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NR3C2 transcript variant 1NM_000901.4:c.149...NM_000901.4:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform 1NP_000892.2:p.Asp...NP_000892.2:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant 1NM_000901.4:c.149...NM_000901.4:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform 1NP_000892.2:p.Asp...NP_000892.2:p.Asp499=D [Asp]> D [Asp]Synonymous Variant
NR3C2 transcript variant 2NM_001166104.1:c....NM_001166104.1:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform 2NP_001159576.1:p....NP_001159576.1:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant 2NM_001166104.1:c....NM_001166104.1:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform 2NP_001159576.1:p....NP_001159576.1:p.Asp499=D [Asp]> D [Asp]Synonymous Variant
NR3C2 transcript variant X1XM_011531975.1:c....XM_011531975.1:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530277.1:p....XP_011530277.1:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant X1XM_011531975.1:c....XM_011531975.1:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530277.1:p....XP_011530277.1:p.Asp499=D [Asp]> D [Asp]Synonymous Variant
NR3C2 transcript variant X2XM_011531976.2:c....XM_011531976.2:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530278.1:p....XP_011530278.1:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant X2XM_011531976.2:c....XM_011531976.2:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530278.1:p....XP_011530278.1:p.Asp499=D [Asp]> D [Asp]Synonymous Variant
NR3C2 transcript variant X3XM_011531977.2:c....XM_011531977.2:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530279.1:p....XP_011530279.1:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant X3XM_011531977.2:c....XM_011531977.2:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530279.1:p....XP_011530279.1:p.Asp499=D [Asp]> D [Asp]Synonymous Variant
NR3C2 transcript variant X4XM_017008217.1:c....XM_017008217.1:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform X2XP_016863706.1:p....XP_016863706.1:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant X4XM_017008217.1:c....XM_017008217.1:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform X2XP_016863706.1:p....XP_016863706.1:p.Asp499=D [Asp]> D [Asp]Synonymous Variant
NR3C2 transcript variant X2XM_011531978.2:c....XM_011531978.2:c.1497T>GD [GAT]> E [GAG]Coding Sequence Variant
mineralocorticoid receptor isoform X2XP_011530280.1:p....XP_011530280.1:p.Asp499GluD [Asp]> E [Glu]Missense Variant
NR3C2 transcript variant X2XM_011531978.2:c....XM_011531978.2:c.1497T>CD [GAT]> D [GAC]Coding Sequence Variant
mineralocorticoid receptor isoform X2XP_011530280.1:p....XP_011530280.1:p.Asp499=D [Asp]> D [Asp]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.073G=0.927
1000GenomesAmericanSub694A=0.170G=0.830
1000GenomesEast AsianSub1008A=0.146G=0.854
1000GenomesEuropeSub1006A=0.084G=0.916
1000GenomesGlobalStudy-wide5008A=0.108G=0.892
1000GenomesSouth AsianSub978A=0.100G=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.110G=0.890
The Genome Aggregation DatabaseAfricanSub8728A=0.098G=0.902
The Genome Aggregation DatabaseAmericanSub838A=0.200G=0.800
The Genome Aggregation DatabaseEast AsianSub1616A=0.125G=0.875
The Genome Aggregation DatabaseEuropeSub18494A=0.111G=0.888
The Genome Aggregation DatabaseGlobalStudy-wide29978A=0.110G=0.889
The Genome Aggregation DatabaseOtherSub302A=0.120G=0.880
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.118G=0.881
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.110G=0.890
PMID Title Author Journal
27528460HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition.Keller JMol Psychiatry
18227835Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.Berrettini WMol Psychiatry
21112363Association of FKBP5 gene haplotypes with completed suicide in the Japanese population.Supriyanto IProg Neuropsychopharmacol Biol Psychiatry
24166410HPA axis genetic variation, cortisol and psychosis in major depression.Schatzberg AFMol Psychiatry
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med

P-Value

SNP ID p-value Traits Study
rs55253.78E-05nicotine dependence18227835

eQTL of rs5525 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs5525 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr47985803279858174E071-11678
chr47985819479858484E071-11368
chr47985803279858174E074-11678
chr47991220279912317E07442350
chr47991240679912521E07442554
chr47985819479858484E081-11368
chr47985819479858484E082-11368




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr47985955179859796E067-10056
chr47985981079861364E067-8488
chr47985955179859796E068-10056
chr47985981079861364E068-8488
chr47985955179859796E069-10056
chr47985981079861364E069-8488
chr47985955179859796E070-10056
chr47985981079861364E070-8488
chr47985955179859796E071-10056
chr47985981079861364E071-8488
chr47985955179859796E072-10056
chr47985981079861364E072-8488
chr47985955179859796E073-10056
chr47985981079861364E073-8488
chr47985955179859796E074-10056
chr47985981079861364E074-8488
chr47989550879895574E07425656
chr47985955179859796E081-10056
chr47985981079861364E081-8488
chr47985955179859796E082-10056
chr47985981079861364E082-8488