Genetics Genetics Research
CHROMOSOME 2 SPRED2 2p14 GENE VIEW SPRED2 · 2p14 2p15 2p13 rs934734 — ~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 rs934734 G / A · SPRED2 · 2p14 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs934734

Gene: SPRED2 — Sprouty Related EVH1 Domain Containing 2 Chr 2:65368452 2p14 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.475275A 0.524725GG 0.228969GA/AG 0.492613AA 0.278418pop=484,372 ↬
African G 0.44831A 0.55169GG 0.200724GA/AG 0.495176AA 0.304101pop=46,432
African American G 0.44895A 0.55105GG 0.201644GA/AG 0.494616AA 0.30374pop=44,762
African Others G 0.4311A 0.5689GG 0.176048GA/AG 0.51018AA 0.313772pop=1,670
Asian G 0.23079A 0.76921GG 0.058423GA/AG 0.344732AA 0.596845pop=15,850
East Asian G 0.20764A 0.79236GG 0.044343GA/AG 0.326589AA 0.629068pop=11,862
European G 0.495561A 0.504439GG 0.244921GA/AG 0.50128AA 0.253799pop=380,482
Latin American 1 G 0.4706A 0.5294GG 0.218858GA/AG 0.50346AA 0.277682pop=4,624
Latin American 2 G 0.35891A 0.64109GG 0.133846GA/AG 0.450128AA 0.416025pop=13,254
Other G 0.43624A 0.56376GG 0.20054GA/AG 0.471394AA 0.328066pop=19,996
Other Asian G 0.2996A 0.7004GG 0.100301GA/AG 0.398696AA 0.501003pop=3,988
South Asian G 0.4092A 0.5908GG 0.181039GA/AG 0.456347AA 0.362614pop=3,734

Studies2

Unread Studies2 ▼
1

Strong Association of Polymorphism in SPRED2 Gene with Disease Susceptibility and Clinical Characteristics of Rheumatoid Arthritis in the Iranian Population.

Study ↗ PDF ↗
PID
The high heritability of Rheumatoid Arthritis (RA) has been estimated from different studies. Recently, Genome-Wide Association Studies (GWAS) show a large number of Single Nucleotide Polymorphisms (SNPs) loci affecting susceptibility to RA. The rs934734 polymorphism in the SPRED2 gene is one of these loci. Studies have shown that the SPRED2 gene is involved in the regulation of inflammatory response, leukocyte infiltration, and local chemokine production. In the current study, the possible asso…

2022 · Pakzad B, Moghadammanesh H, Salesi M et al.

2

Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population.

Study ↗ PDF ↗
PID
Rheumatoid arthritis (RA) is a complex and multifactorial autoimmune disorder with the involvement of multiple genetic and environmental factors. Genome-wide association studies (GWAS) have identified more than 50 RA genetic loci in European populations. Given the anticipated overlap of RA-relevant genes and pathways across different ethnic groups, we sought to replicate 58 GWAS-implicated SNPs reported in Europeans in Pakistani subjects. 1,959 unrelated subjects comprising 1,222 RA cases and 73…

2020 · Aslam MM, John P, Fan KH 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.