Genetics Genetics Research
CHROMOSOME 1 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs12568930 — ~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 rs12568930 T / C · INTERGENIC 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

rs12568930

Gene: INTERGENIC — Intergenic / Genome-wide Chr 1:22375738
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.81107C 0.18893TT 0.661395TC/CT 0.29935CC 0.039255pop=361,076 ↬
African T 0.68058C 0.31942TT 0.465022TC/CT 0.431117CC 0.103861pop=43,770
African American T 0.68264C 0.31736TT 0.467723TC/CT 0.429825CC 0.102452pop=42,166
African Others T 0.6266C 0.3734TT 0.394015TC/CT 0.465087CC 0.140898pop=1,604
Asian T 0.7855C 0.2145TT 0.613997TC/CT 0.343066CC 0.042937pop=9,316
East Asian T 0.7853C 0.2147TT 0.61246TC/CT 0.345739CC 0.041802pop=7,416
European T 0.829883C 0.170117TT 0.689463TC/CT 0.28084CC 0.029698pop=273,558
Latin American 1 T 0.7841C 0.2159TT 0.618576TC/CT 0.330993CC 0.050431pop=6,266
Latin American 2 T 0.89674C 0.10326TT 0.804599TC/CT 0.184283CC 0.011118pop=13,132
Other T 0.8118C 0.1882TT 0.661301TC/CT 0.300917CC 0.037782pop=8,946
Other Asian T 0.7863C 0.2137TT 0.62TC/CT 0.332632CC 0.047368pop=1,900
South Asian T 0.785C 0.215TT 0.619908TC/CT 0.330158CC 0.049934pop=6,088

Studies1

Unread Studies1 ▼
1

Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases.

Study ↗ PDF ↗
PID
Inflammatory bowel disease (IBD) is associated with an increased risk of osteoporosis and bone fracture. The aims of this study were to (1) confirm the association between IBD and low bone density and (2) test for shared risk variants across diseases. The study cohort included patients from the Michigan Genomics Initiative. Student's t tests (continuous) and chi-square tests (categorical) were used for univariate analyses. Multivariable logistic regression was performed to test the effect of IBD…

2023 · Cushing KC, Chen Y, Du X 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.