Genetics Genetics Research
CHROMOSOME 18 SMAD7 18q21.1 GENE VIEW SMAD7 · 18q21.1 18q20 18q22 rs7226855 — ~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 rs7226855 A / G · SMAD7 · 18q21.1 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

rs7226855

Gene: SMAD7 — SMAD Family Member 7 Chr 18:48927678 18q21.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.51146G 0.48854AA 0.269689AG/GA 0.483542GG 0.246769pop=257,504 ↬
African A 0.46875G 0.53125AA 0.231062AG/GA 0.47537GG 0.293568pop=22,046
African American A 0.46962G 0.53038AA 0.2325AG/GA 0.474239GG 0.293261pop=21,428
African Others A 0.439G 0.561AA 0.18123AG/GA 0.514563GG 0.304207pop=618
Asian A 0.2516G 0.7484AA 0.067811AG/GA 0.367668GG 0.564521pop=6,990
East Asian A 0.2423G 0.7577AA 0.06416AG/GA 0.35633GG 0.57951pop=5,798
European A 0.531449G 0.468551AA 0.286328AG/GA 0.490243GG 0.223429pop=214,314
Latin American 1 A 0.5242G 0.4758AA 0.282082AG/GA 0.484262GG 0.233656pop=1,652
Latin American 2 A 0.3507G 0.6493AA 0.136224AG/GA 0.428938GG 0.434838pop=7,796
Other A 0.4606G 0.5394AA 0.21958AG/GA 0.482051GG 0.298368pop=4,290
Other Asian A 0.297G 0.703AA 0.08557AG/GA 0.422819GG 0.491611pop=1,192
South Asian A 0.329G 0.671AA 0.105769AG/GA 0.447115GG 0.447115pop=416

Studies2

Unread Studies2 ▼
1

SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY.

Study ↗ PDF ↗
PID
To investigate differences in genotype distributions of single nucleotide polymorphisms within genes, encoding inflammatory mediators, among patients with rhegmatogenous retinal detachment (RRD) and patients with proliferative vitreoretinopathy (PVR). A genetic association study was performed on 191 Slovenian patients, divided into 2 groups: 113 RRD patients with PVR and 78 RRD patients without PVR. Genotype distributions were investigated within the following 13 single nucleotide polymorphisms:…

2020 · Lumi X, Jelen MM, Zupan A et al.

2

Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese.

Study ↗ PDF ↗
PID
Genome-wide association studies (GWAS) in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs) that influence colorectal cancer (CRC) risk. We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs), in high linkage disequilibrium (LD, r(2)&#x2265; 0.8) and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH) cases and controls. Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs722…

2012 · Thean LF, Li HH, Teo YY 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.