Genetics Genetics Research
CHROMOSOME 2 KCNH7 2q24.2 GENE VIEW KCNH7 · 2q24.2 2q23 2q25 rs17716942 — ~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 rs17716942 T / C · KCNH7 · 2q24.2 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

rs17716942

Gene: KCNH7 — Potassium Voltage-Gated Channel Subfamily H Member 7 Chr 2:162404181 2q24.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.87696C 0.12304TT 0.771656TC/CT 0.210607CC 0.017737pop=581,054 ↬
African T 0.97346C 0.02654TT 0.947764TC/CT 0.051402CC 0.000834pop=55,134
African American T 0.97276C 0.02724TT 0.94638TC/CT 0.052756CC 0.000864pop=53,226
African Others T 0.9932C 0.0068TT 0.986373TC/CT 0.013627CC 0pop=1,908
Asian T 0.99781C 0.00219TT 0.995929TC/CT 0.003769CC 0.000302pop=13,266
East Asian T 0.9998C 0.0002TT 0.999599TC/CT 0.000401CC 0pop=9,972
European T 0.858851C 0.141149TT 0.738489TC/CT 0.240724CC 0.020787pop=460,968
Latin American 1 T 0.8921C 0.1079TT 0.798681TC/CT 0.186741CC 0.014578pop=5,762
Latin American 2 T 0.9223C 0.0777TT 0.853273TC/CT 0.138059CC 0.008667pop=12,922
Other T 0.88712C 0.11288TT 0.791355TC/CT 0.19153CC 0.017115pop=25,124
Other Asian T 0.9918C 0.0082TT 0.984821TC/CT 0.013965CC 0.001214pop=3,294
South Asian T 0.9398C 0.0602TT 0.885758TC/CT 0.108149CC 0.006093pop=7,878

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