Genetics Genetics Research
CHROMOSOME 16 VKORC1 16p11.2 GENE VIEW VKORC1 · 16p11.2 16p12 16p10 rs2359612 — ~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 rs2359612 A / G · VKORC1 · 16p11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs2359612

Gene: VKORC1 — Vitamin K Epoxide Reductase Complex Subunit 1 Chr 16:31092475 16p11.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.382243G 0.617757AA 0.155928AG/GA 0.45263GG 0.391442pop=539,518 ↬
African A 0.21354G 0.78646AA 0.046302AG/GA 0.334477GG 0.619221pop=54,814
African American A 0.21429G 0.78571AA 0.046853AG/GA 0.334882GG 0.618265pop=52,932
African Others A 0.1923G 0.8077AA 0.030818AG/GA 0.323061GG 0.646121pop=1,882
Asian A 0.8734G 0.1266AA 0.763217AG/GA 0.220377GG 0.016407pop=9,874
East Asian A 0.8962G 0.1038AA 0.803589AG/GA 0.185288GG 0.011122pop=7,912
European A 0.391612G 0.608388AA 0.154902AG/GA 0.473419GG 0.371679pop=427,224
Latin American 1 A 0.3644G 0.6356AA 0.139546AG/GA 0.449621GG 0.410833pop=8,714
Latin American 2 A 0.44989G 0.55011AA 0.20567AG/GA 0.488436GG 0.305895pop=16,862
Other A 0.41742G 0.58258AA 0.184051AG/GA 0.466742GG 0.349206pop=15,876
Other Asian A 0.7813G 0.2187AA 0.600408AG/GA 0.361876GG 0.037717pop=1,962
South Asian A 0.1956G 0.8044AA 0.043549AG/GA 0.304192GG 0.652259pop=6,154

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