CHROMOSOME 13 ABCC4 13q32.1 GENE VIEW ABCC4 · 13q32.1 13q31 13q33 rs8002180 — ~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 rs8002180 T / C · ABCC4 · 13q32.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs8002180

Gene: ABCC4 — ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group) Chr 13:95270511 13q32.1 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.682887C 0.317113TT 0.475862TC/CT 0.41405CC 0.110088pop=427,750
African T 0.37366C 0.62634TT 0.143123TC/CT 0.461083CC 0.395793pop=36,514
African American T 0.37612C 0.62388TT 0.1443TC/CT 0.463643CC 0.392057pop=35,454
African Others T 0.2915C 0.7085TT 0.103774TC/CT 0.375472CC 0.520755pop=1,060
Asian T 0.6665C 0.3335TT 0.446822TC/CT 0.43927CC 0.113908pop=9,534
East Asian T 0.6716C 0.3284TT 0.454736TC/CT 0.433804CC 0.11146pop=7,644
European T 0.716861C 0.283139TT 0.513912TC/CT 0.405896CC 0.080191pop=345,374
Latin American 1 T 0.6453C 0.3547TT 0.419471TC/CT 0.45158CC 0.128949pop=7,786
Latin American 2 T 0.68597C 0.31403TT 0.4653TC/CT 0.441344CC 0.093356pop=16,196
Other T 0.67064C 0.32936TT 0.455351TC/CT 0.430586CC 0.114064pop=11,064
Other Asian T 0.6455C 0.3545TT 0.414815TC/CT 0.461376CC 0.12381pop=1,890
South Asian T 0.7551C 0.2449TT 0.570983TC/CT 0.368175CC 0.060842pop=1,282

Studies4

Unread Studies4
1
This thesis develops methods that address the underlying reasons for inefficient SNP discovery in GWAS. After developing methods that remove outliers and simulate Linkage …
2
To evaluate the prognostic significance and potential therapeutic implication of genetic variability in prostaglandin E 2 pathway genes in patients with locally advanced rectal …
3
Neoadjuvant chemoradiotherapy (nCRT) followed by curative surgery in locally advanced rectal cancer (LARC) improves pelvic disease control. Survival improvement is …
4
… Índividuos com genótipo TC do rs8002180 também têm uma sobrevida livre de doença … Individuals with CT genotype of the rs8002180 also have a disease-free survival committed in …
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.