Genetics Genetics Research
CHROMOSOME 6 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs9268839 — ~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 rs9268839 A / C · INTERGENIC HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs9268839

Gene: INTERGENIC — Intergenic / Genome-wide Chr 6:32460995
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total A 0.601107G 0.398893AA 0.363533AG/GA 0.475149GG 0.161318pop=328,878 ↬
African A 0.72211G 0.27789AA 0.521725AG/GA 0.400778GG 0.077497pop=44,234
African American A 0.72056G 0.27944AA 0.519191AG/GA 0.402731GG 0.078078pop=42,624
African Others A 0.7634G 0.2366AA 0.58882AG/GA 0.349068GG 0.062112pop=1,610
Asian A 0.6072G 0.3928AA 0.368891AG/GA 0.476626GG 0.154484pop=9,412
East Asian A 0.5946G 0.4054AA 0.356031AG/GA 0.477171GG 0.166799pop=7,578
European A 0.581034G 0.418966AA 0.337004AG/GA 0.48806GG 0.174936pop=244,798
Latin American 1 A 0.595G 0.405AA 0.36059AG/GA 0.468834GG 0.170576pop=5,968
Latin American 2 A 0.56708G 0.43292AA 0.322586AG/GA 0.488993GG 0.188421pop=11,538
Other A 0.59305G 0.40695AA 0.354391AG/GA 0.477316GG 0.168293pop=11,682
Other Asian A 0.6592G 0.3408AA 0.422028AG/GA 0.474373GG 0.103599pop=1,834
South Asian A 0.6228G 0.3772AA 0.398074AG/GA 0.449438GG 0.152488pop=1,246

Studies1

Unread Studies1 ▼
1

Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans.

Study ↗ PDF ↗
PID
A recent genome-wide association study in a German population and two subsequent studies in European populations found that a non-synonymous single-nucleotide polymorphism (SNP), rs1049550, within the annexin A11 (ANXA11) gene was associated with susceptibility to sarcoidosis. We sought to identify additional ANXA11 variants independently associated with sarcoidosis, determine whether any sarcoidosis-associated ANXA11 variants were associated with chest radiographic phenotypes, and explore human…

2013 · Levin AM, Iannuzzi MC, Montgomery CG et al.

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.