Genetics Genetics Research
CHROMOSOME 1 MTX1 1q22 GENE VIEW MTX1 · 1q22 1q21 1q23 rs760077 — ~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 rs760077 Serine 63 → Threonine T / A · MTX1 · 1q22 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

rs760077

Serine 63 → Threonine Gene: MTX1 — Metaxin 1 Chr 1:155208991 1q22 5 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.60104A 0.39896TT 0.36443TA/AT 0.473221AA 0.162349pop=54,968 ↬
African T 0.6677A 0.3323TT 0.444264TA/AT 0.446857AA 0.108879pop=6,172
African American T 0.6674A 0.3326TT 0.442915TA/AT 0.448959AA 0.108126pop=5,956
African Others T 0.676A 0.324TT 0.481481TA/AT 0.388889AA 0.12963pop=216
Asian T 0.765A 0.235TT 0.588235TA/AT 0.352941AA 0.058824pop=170
East Asian T 0.842A 0.158TT 0.684211TA/AT 0.315789AA 0pop=114
European T 0.58611A 0.41389TT 0.345797TA/AT 0.480628AA 0.173575pop=39,902
Latin American 1 T 0.629A 0.371TT 0.372414TA/AT 0.513793AA 0.113793pop=580
Latin American 2 T 0.789A 0.211TT 0.621951TA/AT 0.334146AA 0.043902pop=820
Other T 0.5997A 0.4003TT 0.364442TA/AT 0.470507AA 0.165051pop=7,222
Other Asian T 0.61A 0.39TT 0.392857TA/AT 0.428571AA 0.178571pop=56
South Asian T 0.559A 0.441TT 0.333333TA/AT 0.45098AA 0.215686pop=102

Studies0

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