Genetics Genetics Research
CHROMOSOME 3 SCN10A 3p22.2 GENE VIEW SCN10A · 3p22.2 3p23 3p21 rs10428132 — ~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 rs10428132 T / A · SCN10A · 3p22.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs10428132

Gene: SCN10A — Sodium Voltage-Gated Channel Alpha Subunit 10 Chr 3:38736063 3p22.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.37982G 0.62018TT 0.152562TG/GT 0.454514GG 0.392923pop=554,724 ↬
African T 0.14443G 0.85557TT 0.020358TG/GT 0.248148GG 0.731495pop=53,444
African American T 0.14651G 0.85349TT 0.020875TG/GT 0.251271GG 0.727855pop=51,546
African Others T 0.088G 0.912TT 0.006322TG/GT 0.16333GG 0.830348pop=1,898
Asian T 0.20289G 0.79711TT 0.046631TG/GT 0.312524GG 0.640845pop=10,508
East Asian T 0.1996G 0.8004TT 0.043634TG/GT 0.311874GG 0.644492pop=8,388
European T 0.413254G 0.586746TT 0.17205TG/GT 0.482408GG 0.345542pop=449,068
Latin American 1 T 0.3299G 0.6701TT 0.112505TG/GT 0.434709GG 0.452786pop=9,404
Latin American 2 T 0.39353G 0.60647TT 0.152622TG/GT 0.481808GG 0.365569pop=12,698
Other T 0.36364G 0.63636TT 0.141077TG/GT 0.44513GG 0.413793pop=16,530
Other Asian T 0.216G 0.784TT 0.058491TG/GT 0.315094GG 0.626415pop=2,120
South Asian T 0.376G 0.624TT 0.150391TG/GT 0.451172GG 0.398438pop=3,072

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