Genetics Genetics Research
CHROMOSOME 9 DDX58 9p21.1 GENE VIEW DDX58 · 9p21.1 9p22 9p20 rs11795343 — ~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 rs11795343 T / C · DDX58 · 9p21.1 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

rs11795343

Gene: DDX58 — RNA Sensor RIG-I Chr 9:32523739 9p21.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.59503C 0.40497TT 0.357331TC/CT 0.475396CC 0.167272pop=499,066 ↬
African T 0.51161C 0.48839TT 0.261049TC/CT 0.501128CC 0.237823pop=47,876
African American T 0.51214C 0.48786TT 0.261462TC/CT 0.501366CC 0.237172pop=46,110
African Others T 0.4977C 0.5023TT 0.250283TC/CT 0.494904CC 0.254813pop=1,766
Asian T 0.7425C 0.2575TT 0.550992TC/CT 0.383068CC 0.06594pop=7,158
East Asian T 0.7492C 0.2508TT 0.560069TC/CT 0.378313CC 0.061618pop=5,810
European T 0.591619C 0.408381TT 0.350933TC/CT 0.481373CC 0.167694pop=399,752
Latin American 1 T 0.607C 0.393TT 0.373307TC/CT 0.467386CC 0.159308pop=7,972
Latin American 2 T 0.75929C 0.24071TT 0.580699TC/CT 0.357174CC 0.062127pop=18,092
Other T 0.63358C 0.36642TT 0.404359TC/CT 0.458451CC 0.13719pop=12,756
Other Asian T 0.7136C 0.2864TT 0.511869TC/CT 0.403561CC 0.08457pop=1,348
South Asian T 0.731C 0.269TT 0.542857TC/CT 0.37619CC 0.080952pop=5,460

Studies1

Unread Studies1 ▼
1

Identification of MAVS as a Novel Risk Factor for the Development of Osteoarthritis.

Study ↗ PDF ↗
PID
Evidence indicated that inflammatory response and some pattern-recognition receptors play important roles in the occurrence and progression of osteoarthritis. This study is conducted to evaluate the role of RIG-I and its adaptor protein MAVS in the pathogenesis of osteoarthritis. Four SNPs in RIG-I gene and four in MAVS gene were genotyped in 1056 Chinese Han population. We also overexpressed MAVS in murine chondrogenic ATDC5 cells and analyzed the cell viability and apoptosis. Rs11795343 (P-all…

2018 · Liu J, Tang LY, Wang YG 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.