Genetics Genetics Research
CHROMOSOME 3 SIAH2 3q25.1 GENE VIEW SIAH2 · 3q25.1 3q24 3q26 rs6788895 — ~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 rs6788895 G / C · SIAH2 · 3q25.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C G Guanine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs6788895

Gene: SIAH2 — Siah E3 Ubiquitin Protein Ligase 2 Chr 3:150750021 3q25.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.917267T 0.082733GG 0.858186GT/TG 0.118162TT 0.023652pop=675,632 ↬
African G 0.52941T 0.47059GG 0.281108GT/TG 0.496601TT 0.222291pop=55,018
African American G 0.53245T 0.46755GG 0.284111GT/TG 0.496687TT 0.219202pop=53,120
African Others G 0.4442T 0.5558GG 0.19705GT/TG 0.494204TT 0.308746pop=1,898
Asian G 0.64435T 0.35565GG 0.419392GT/TG 0.44992TT 0.130688pop=13,758
East Asian G 0.63333T 0.36667GG 0.405395GT/TG 0.455863TT 0.138741pop=10,898
European G 0.968785T 0.031215GG 0.938626GT/TG 0.060318TT 0.001055pop=551,408
Latin American 1 G 0.81259T 0.18741GG 0.66015GT/TG 0.304887TT 0.034962pop=10,640
Latin American 2 G 0.87156T 0.12844GG 0.759039GT/TG 0.225045TT 0.015917pop=18,974
Other G 0.87043T 0.12957GG 0.769883GT/TG 0.201091TT 0.029026pop=17,226
Other Asian G 0.6864T 0.3136GG 0.472727GT/TG 0.427273TT 0.1pop=2,860
South Asian G 0.8562T 0.1438GG 0.73513GT/TG 0.2421TT 0.02277pop=8,608

Studies2

Unread Studies2 ▼
1

A common variant in the SIAH2 locus is associated with estrogen receptor-positive breast cancer in the Chinese Han population.

Study ↗ PDF ↗
PID
Genome-wide association studies (GWAS) have identified many loci associated with breast cancer risk. These studies have primarily been conducted in populations of European descent. To determine whether previously reported susceptibility loci in other ethnic groups are also risk factors for breast cancer in a Chinese population. We genotyped 21 previously reported single nucleotide polymorphisms (SNPs) within a female Chinese cohort of 1203 breast cancer cases and 2525 healthy controls using the…

2013 · Zhang B, Li Y, Zheng X et al.

2

A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.

Study ↗ PDF ↗
PID
In Japan, breast cancer is the most common cancer among women and the second leading cause of cancer death among women worldwide. To identify genetic variants associated with the disease susceptibility, we performed a genome-wide association study (GWAS) using a total of 1086 Japanese female patients with hormonal receptor-positive (HRP) breast cancer and 1816 female controls. We selected 33 single-nucleotide polymorphisms (SNPs) with suggestive associations in GWAS (P-value of &lt;1 &#xd7; 10(-…

2012 · Elgazzar S, Zembutsu H, Takahashi A 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.