CHROMOSOME 17 ABCC3 17q21.33 GENE VIEW ABCC3 · 17q21.33 17q20 17q22 rs4148405 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs4148405 T / A · ABCC3 · 17q21.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs4148405

Gene: ABCC3 — ATP Binding Cassette Subfamily C Member 3 Chr 17:50636207 17q21.33 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.821763G 0.178237TT 0.683001TG/GT 0.277525GG 0.039475pop=474,026
African T 0.57861G 0.42139TT 0.338022TG/GT 0.481181GG 0.180797pop=47,346
African American T 0.57988G 0.42012TT 0.339432TG/GT 0.480895GG 0.179673pop=45,694
African Others T 0.5436G 0.4564TT 0.299031TG/GT 0.489104GG 0.211864pop=1,652
Asian T 0.7706G 0.2294TT 0.591064TG/GT 0.359135GG 0.049801pop=7,028
East Asian T 0.7669G 0.2331TT 0.58319TG/GT 0.36741GG 0.0494pop=5,830
European T 0.855223G 0.144777TT 0.731552TG/GT 0.247341GG 0.021107pop=385,654
Latin American 1 T 0.7542G 0.2458TT 0.575812TG/GT 0.356761GG 0.067428pop=5,606
Latin American 2 T 0.78871G 0.21129TT 0.6253TG/GT 0.326811GG 0.047889pop=11,652
Other T 0.79212G 0.20788TT 0.632389TG/GT 0.319469GG 0.048142pop=11,300
Other Asian T 0.7888G 0.2112TT 0.629382TG/GT 0.318865GG 0.051753pop=1,198
South Asian T 0.834G 0.166TT 0.701471TG/GT 0.265074GG 0.033456pop=5,440

Studies13

Unread Studies13
1
… A lower DFS was reported with variant alleles of ABCC3 polymorphisms (rs4148405, rs1989983, … the previous findings of lower OS rates with the minor allele of ABCC3, rs4148405 [88]. …
2
Drug resistance is one of the main causes of chemotherapy failure. Although several factors are involved in cancer drug resistant, the exporter pumps overexpression that mediates the …
3
… The two other SNPs analyzed in our study, ABCC3 rs4148405 … This pharmacogenomics study identified rs4148405 and … that the association of ABCC3 rs4148405 with overall survival is …
4
Six‐month combination regimens could lead to serious hepatotoxicity, which may limit the clinical use of antituberculosis drugs. ABCC transporters are critical to the influx and efflux of …
5
Drug resistance and relapse are considered to be the major reasons for treatment failure in acute myeloid leukemia (AML). There is limited data on the role of ABC …
6
La leucemia mieloide crónica (LMC) se caracteriza por el rearreglo BCR-ABL1 sin embargo no se conocen losfactores genéticosque pueden influir en el desarrollo de la enfermedad y …
7
… The SNP rs4148405 was found to be associated with significantly shorter disease-free survival in AML patients, with the minor allele (G) being associated with shorter time to relapse …
8
… Nevertheless, variants of ABCC3 (rs4148405 and others) obtained significant associations with lower disease-free survival (DFS) in a Caucasian cohort of AML patients [Citation24], but …
9
… The SNP rs4148405 was found to be associated with significantly shorter disease free survival in AML patients, with the minor allele (G) being associated with shorter time to relapse. …
10
… The authors found similar relationships with rs4148405 in ABCC3, although while passing multiple testing correction in cohort 1 (p < 10e−06), it did not replicate in cohort 2. Additional …
11
… An intronic SNP (rs4148405) in ABCC3 was associated with a significantly shorter disease-free survival in adult acute myeloid leukemia (AML) patients treated with chemotherapy (…
12
… The analysis uncovered a SNP in the intronic region of ABCC3 (rs4148405), which was associated with a significantly shorter DFS in the primary cohort. A SNP in the GSTM1–GSTM5 …
13
… was the intronic variant in ABCC3, rs4148405 (HR=3.1, P=… suggest that the ABCC3 variant, rs4148405, is in a functional … that the minor allele of rs4148405 is associated with higher …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0

No unused studies.