Genetics Genetics Research
CHROMOSOME 6 SLC22A1 6q25.3 GENE VIEW SLC22A1 · 6q25.3 6q24 6q26 rs12208357 — ~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 rs12208357 Arginine 61 → Cysteine C / T · SLC22A1 · 6q25.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs12208357

Arginine 61 → Cysteine Gene: SLC22A1 — Solute Carrier Family 22 Member 1 Chr 6:160122116 6q25.3
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.938858T 0.061142CC 0.882392CT/TC 0.11293TT 0.004677pop=291,614 ↬
African C 0.98715T 0.01285CC 0.974743CT/TC 0.024814TT 0.000443pop=27,082
African American C 0.98687T 0.01313CC 0.9742CT/TC 0.025342TT 0.000458pop=26,202
African Others C 0.995T 0.005pop=880
Asian C 0.9977T 0.0023pop=3,860
East Asian C 0.9982T 0.0018pop=2,268
European C 0.929096T 0.070904CC 0.863717CT/TC 0.130759TT 0.005524pop=218,310
Latin American 1 C 0.9654T 0.0346CC 0.932008CT/TC 0.066799TT 0.001193pop=5,030
Latin American 2 C 0.9773T 0.0227CC 0.955002CT/TC 0.044519TT 0.000479pop=8,356
Other C 0.94084T 0.05916CC 0.886666CT/TC 0.108351TT 0.004983pop=26,488
Other Asian C 0.9969T 0.0031pop=1,592
South Asian C 0.9747T 0.0253CC 0.950965CT/TC 0.047428TT 0.001608pop=2,488

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