Gene entry
SLC4A1
solute carrier family 4 member 1 (Diego blood group)
- Chromosome
- 17
- Cytoband
- 17q21.31
- Variants (rsID)
- 56
SLC4A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.31). Its official name is “solute carrier family 4 member 1 (Diego blood group)”. The reference table lists 56 variants (rsID) for this gene.
Clinically classified variants
20 reference-table entries with clinical significance.
- rs121912749Benignsingle nucleotide variantHereditary spherocytosis type 4|Autosomal dominant distal renal tubular acidosis
- rs13306788Benignsingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4|Hemolytic anemia
- rs145041032Benignsingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4|Hemolytic anemia
- rs2072081Benignsingle nucleotide variantHereditary spherocytosis type 4|Hemolytic anemia|Autosomal dominant distal renal tubular acidosis
- rs2285644Benignsingle nucleotide variantDIEGO BLOOD GROUP ANTIGEN|Hemolytic anemia|Hereditary spherocytosis type 4|Autosomal dominant distal renal tubular acidosis
- rs35807245Benignsingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4|Hemolytic anemia
- rs45555735Benignsingle nucleotide variantHemolytic anemia|Autosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4
- rs5026Benignsingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4|Hemolytic anemia
- rs5027Benignsingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4|Hemolytic anemia
- rs5035Benignsingle nucleotide variantHemolytic anemia|Hereditary spherocytosis type 4|Autosomal dominant distal renal tubular acidosis
- rs5036Benignsingle nucleotide variantBand 3 memphis|Hemolytic anemia|Autosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4
- rs140424071Conflicting interpretationssingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Hemolytic anemia|Hereditary spherocytosis type 4
- rs147390654Conflicting interpretationssingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Renal tubular acidosis, distal, 4, with hemolytic anemia|Hereditary spherocytosis type 4|Hereditary spherocytosis type 4|Hemolytic anemia|Autosomal dominant distal renal tubular acidosis
- rs201265160Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 4|Hemolytic anemia|Autosomal dominant distal renal tubular acidosis
- rs28931583Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 4
- rs368863744Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 4|Autosomal dominant distal renal tubular acidosis|Hemolytic anemia
- rs45562031Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 4|Hemolytic anemia|Cryohydrocytosis|Autosomal dominant distal renal tubular acidosis
- rs121912751Pathogenicsingle nucleotide variantAutosomal dominant distal renal tubular acidosis|Renal tubular acidosis, distal, 4, with hemolytic anemia|11 conditions|Distal renal tubular acidosis
- rs121912754Pathogenicsingle nucleotide variantRenal tubular acidosis, distal, 4, with hemolytic anemia
- rs866727908Pathogenicsingle nucleotide variantHereditary spherocytosis type 4|Hereditary spherocytosis type 4|Autosomal dominant distal renal tubular acidosis
Other listed variants
- rs5025
- rs5038
- rs2074107
- rs2252501
- rs2521602
- rs8066822
- rs12944886
- rs12952862
- rs13306776
- rs28617346
- rs35836399
- rs45520231
- rs45568837
- rs45574837
- rs55773290
- rs77765444
- rs116844389
- rs138288425
- rs141605301
- rs142161945
- rs142757938
- rs142905862
- rs143131877
- rs145054469
- rs148170067
- rs149362848
- rs201611359
- rs369015220
- rs750815470
- rs767364927
- rs768426818
- rs774121522
- rs777827818
- rs865972695
- rs867278946
- rs867959285
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.