Genetics Genetics Research
CHROMOSOME 12 SH2B3 12q24.12 GENE VIEW SH2B3 · 12q24.12 12q23 12q25 rs3184504 — ~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 rs3184504 Tryptophan 60 → Arginine T / A · SH2B3 · 12q24.12 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

rs3184504

Tryptophan 60 → Arginine Gene: SH2B3 — SH2B Adaptor Protein 3 Chr 12:111446804 12q24.12 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.428043C 0.571957TT 0.20773TC/CT 0.440626CC 0.351644pop=663,688 ↬
African T 0.09111C 0.90889TT 0.011409TC/CT 0.159396CC 0.829196pop=61,708
African American T 0.09391C 0.90609TT 0.011812TC/CT 0.1642CC 0.823987pop=59,598
African Others T 0.0118C 0.9882TT 0TC/CT 0.023697CC 0.976303pop=2,110
Asian T 0.00636C 0.99364TT 0.000293TC/CT 0.01214CC 0.987568pop=13,674
East Asian T 0.00136C 0.99864TT 0TC/CT 0.002714CC 0.997286pop=10,318
European T 0.495561C 0.504439TT 0.248575TC/CT 0.493971CC 0.257453pop=522,844
Latin American 1 T 0.3427C 0.6573TT 0.117785TC/CT 0.449765CC 0.43245pop=9,356
Latin American 2 T 0.24622C 0.75378TT 0.063431TC/CT 0.365584CC 0.570985pop=18,666
Other T 0.35742C 0.64258TT 0.161345TC/CT 0.392156CC 0.4465pop=29,626
Other Asian T 0.0218C 0.9782TT 0.001192TC/CT 0.04112CC 0.957688pop=3,356
South Asian T 0.1134C 0.8866TT 0.016381TC/CT 0.194011CC 0.789608pop=7,814

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