Genetics Genetics Research
CHROMOSOME 9 PTCSC2 9q22.33 GENE VIEW PTCSC2 · 9q22.33 9q21 9q23 rs965513 — ~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 rs965513 A / C · PTCSC2 · 9q22.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs965513

Gene: PTCSC2 — Papillary Thyroid Carcinoma Susceptibility Candidate 2 Chr 9:97793827 9q22.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.310905G 0.689095AA 0.100305AG/GA 0.4212GG 0.478496pop=767,422 ↬
African A 0.16521G 0.83479AA 0.028218AG/GA 0.273975GG 0.697807pop=64,568
African American A 0.16616G 0.83384AA 0.028625AG/GA 0.275079GG 0.696297pop=62,324
African Others A 0.1386G 0.8614AA 0.016934AG/GA 0.243316GG 0.73975pop=2,244
Asian A 0.09056G 0.90944AA 0.01126AG/GA 0.158594GG 0.830145pop=14,742
East Asian A 0.07296G 0.92704AA 0.006657AG/GA 0.132602GG 0.860741pop=11,116
European A 0.334686G 0.665314AA 0.112058AG/GA 0.445256GG 0.442686pop=618,588
Latin American 1 A 0.3007G 0.6993AA 0.092068AG/GA 0.41724GG 0.490692pop=9,884
Latin American 2 A 0.27216G 0.72784AA 0.071908AG/GA 0.400506GG 0.527586pop=20,554
Other A 0.28381G 0.71619AA 0.085637AG/GA 0.396353GG 0.51801pop=31,038
Other Asian A 0.1445G 0.8555AA 0.025372AG/GA 0.238279GG 0.736349pop=3,626
South Asian A 0.2715G 0.7285AA 0.077535AG/GA 0.387922GG 0.534543pop=8,048

Studies0

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