Genetics Genetics Research
CHROMOSOME 17 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs3091315 — ~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 rs3091315 A / G · INTERGENIC 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

rs3091315

Gene: INTERGENIC — Intergenic / Genome-wide Chr 17:34266646
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.701092G 0.298908AA 0.496996AG/GA 0.408191GG 0.094813pop=517,038 ↬
African A 0.63204G 0.36796AA 0.39682AG/GA 0.470437GG 0.132743pop=41,132
African American A 0.63231G 0.36769AA 0.397063AG/GA 0.4705GG 0.132438pop=39,898
African Others A 0.6232G 0.3768AA 0.388979AG/GA 0.468395GG 0.142626pop=1,234
Asian A 0.42341G 0.57659AA 0.187822AG/GA 0.471186GG 0.340992pop=15,930
East Asian A 0.40421G 0.59579AA 0.172958AG/GA 0.462506GG 0.364536pop=11,922
European A 0.727429G 0.272571AA 0.529827AG/GA 0.395203GG 0.07497pop=416,566
Latin American 1 A 0.6733G 0.3267AA 0.452915AG/GA 0.440842GG 0.106244pop=5,798
Latin American 2 A 0.48501G 0.51499AA 0.242235AG/GA 0.485541GG 0.272224pop=11,204
Other A 0.65711G 0.34289AA 0.438428AG/GA 0.437367GG 0.124205pop=22,640
Other Asian A 0.4805G 0.5195AA 0.232036AG/GA 0.497006GG 0.270958pop=4,008
South Asian A 0.6667G 0.3333AA 0.445329AG/GA 0.442675GG 0.111996pop=3,768

Studies0

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