Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs10434128

Hard Link
rs10434128 is a snp on gene NR3C2 (nuclear receptor subfamily 3, group C, member 2)

GeneNR3C2 Chromosome number 4 Chromosome position 148324141
Alleles A/G/T Minor Allele A Minor Allele Frequency 0.1278
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

NOT CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs5483 () | rs75932628 (TREM2) | rs80357906 (BRCA1) | rs28897672 (BRCA1) | rs2282679 (GC) | rs10741657 (CYP2R1) | rs7775228 (CHR6-LOC32658079) | rs7454108 (CHR6-LOC32713706) | rs2395182 (HLA-DRA) | rs1611131 () | rs2073837 ()

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs1801181 (CBS) | rs20541 (IL13) | rs6025 (F5) | rs2569191 (CD14) | rs4680 (COMT) | rs2235544 (DIO1) | rs2075252 (LRP2) | rs2187668 (HLA-DQA1)








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