Genetics Genetics Research
CHROMOSOME 19 SPIB 19q13.33 GENE VIEW SPIB · 19q13.33 19q12 19q14 rs3745516 — ~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 rs3745516 A / G · SPIB · 19q13.33 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

rs3745516

Gene: SPIB — Spi-B Transcription Factor Chr 19:50423485 19q13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.303115G 0.696885AA 0.113525AG/GA 0.37918GG 0.507294pop=735,080 ↬
African A 0.64539G 0.35461AA 0.417956AG/GA 0.454877GG 0.127167pop=68,634
African American A 0.642G 0.358AA 0.413254AG/GA 0.457495GG 0.129251pop=66,274
African Others A 0.7407G 0.2593AA 0.55AG/GA 0.381356GG 0.068644pop=2,360
Asian A 0.79548G 0.20452AA 0.636146AG/GA 0.318671GG 0.045183pop=16,732
East Asian A 0.81837G 0.18163AA 0.667836AG/GA 0.301068GG 0.031096pop=12,542
European A 0.241154G 0.758846AA 0.058914AG/GA 0.364481GG 0.576605pop=576,606
Latin American 1 A 0.383G 0.617AA 0.145599AG/GA 0.474811GG 0.37959pop=10,838
Latin American 2 A 0.34748G 0.65252AA 0.119716AG/GA 0.455534GG 0.42475pop=22,804
Other A 0.35729G 0.64271AA 0.154077AG/GA 0.406421GG 0.439502pop=30,712
Other Asian A 0.727G 0.273AA 0.541289AG/GA 0.37136GG 0.087351pop=4,190
South Asian A 0.3552G 0.6448AA 0.126799AG/GA 0.456706GG 0.416495pop=8,754

Studies2

Unread Studies2 ▼
1

Investigating the causal relationship and potential shared diagnostic genes between primary biliary cholangitis and systemic lupus erythematosus using bidirectional Mendelian randomization and transcriptomic analyses.

Study ↗ PDF ↗
PID
The co-occurrence of primary biliary cholangitis (PBC) and systemic lupus erythematosus (SLE) has been consistently reported in observational studies. Nevertheless, the underlying causal correlation between these two conditions still needs to be established. We performed a bidirectional two-sample Mendelian randomization (MR) study to assess their causal association. Five MR analysis methods were utilized for causal inference, with inverse-variance weighted (IVW) selected as the primary method.…

2024 · Tao T, Tang A, Lv L et al.

2

Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.

Study ↗ PDF ↗
PID
To examine the genetics of susceptibility to primary biliary cirrhosis (PBC), genome-wide association studies GWAS have been performed in patients of European ancestry and have shown the significant associations of IL12-related pathways, SPIB, IRF5-TNPO3, and 17q12-21. We tested whether these findings could be extended to a Japanese cohort, 303 Japanese PBC and 298 controls. We failed to detect significant associations at IL12A (rs574808, rs1075498) and IL12RB2 (rs3790567). There was no genetic…

2011 · Tanaka A, Invernizzi P, Ohira H 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.