Genetics Genetics Research
CHROMOSOME 2 REL 2p16.1 GENE VIEW REL · 2p16.1 2p17 2p15 rs34695944 — ~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 rs34695944 T / C · REL · 2p16.1 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

rs34695944

Gene: REL — REL Proto-Oncogene, NF-KB Subunit Chr 2:60897715 2p16.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.683894C 0.316106TT 0.479372TC/CT 0.409043CC 0.111585pop=305,220 ↬
African T 0.89421C 0.10579TT 0.800268TC/CT 0.187887CC 0.011845pop=40,354
African American T 0.89181C 0.10819TT 0.795866TC/CT 0.191896CC 0.012238pop=38,896
African Others T 0.9582C 0.0418TT 0.917695TC/CT 0.080933CC 0.001372pop=1,458
Asian T 0.9632C 0.0368TT 0.927281TC/CT 0.071827CC 0.000892pop=8,966
East Asian T 0.9697C 0.0303TT 0.94TC/CT 0.059444CC 0.000556pop=7,200
European T 0.630259C 0.369741TT 0.397923TC/CT 0.464671CC 0.137406pop=236,890
Latin American 1 T 0.7287C 0.2713TT 0.520474TC/CT 0.416487CC 0.063039pop=3,712
Latin American 2 T 0.7807C 0.2193TT 0.609672TC/CT 0.341966CC 0.048362pop=7,568
Other T 0.7698C 0.2302TT 0.601658TC/CT 0.336302CC 0.062039pop=6,512
Other Asian T 0.9366C 0.0634TT 0.875425TC/CT 0.12231CC 0.002265pop=1,766
South Asian T 0.8941C 0.1059TT 0.802956TC/CT 0.182266CC 0.014778pop=1,218

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