Genetics Genetics Research
CHROMOSOME 16 ABCC6 16p13.11 GENE VIEW ABCC6 · 16p13.11 16p14 16p12 rs63750759 — ~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 rs63750759 Arginine 1314 → Tryptophan G / A · ABCC6 · 16p13.11 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs63750759

Arginine 1314 → Tryptophan Gene: ABCC6 — ATP Binding Cassette Subfamily C Member 6 Chr 16:16154974 16p13.11 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies9

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Total G 0.999774A 0.000226GG 0.999548GA/AG 0.000452AA 0pop=252,006 ↬
African G 0.99839A 0.00161GG 0.996788GA/AG 0.003212AA 0pop=29,890
African American G 0.99843A 0.00157GG 0.996853GA/AG 0.003147AA 0pop=28,596
African Others G 0.9977A 0.0023GG 0.995363GA/AG 0.004637AA 0pop=1,294
Asian G 0.9998A 0.0002GG 0.999666GA/AG 0.000334AA 0pop=5,986
East Asian G 0.9998A 0.0002GG 0.999599GA/AG 0.000401AA 0pop=4,982
European G 0.99998A 0.00002GG 0.99996GA/AG 0.00004AA 0pop=200,022
Latin American 2 G 0.9997A 0.0003GG 0.999404GA/AG 0.000596AA 0pop=3,354
Other G 0.99972A 0.00028GG 0.999438GA/AG 0.000562AA 0pop=10,674

Studies1

Unread Studies1 ▼
1

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study

Study ↗ PDF ↗
PID
Despite the existing data on the Multisystem Inflammatory Syndrome in Children (MIS-C), the factors that determine these patients evolution remain elusive. Answers may lie, at least in part, in genetics. It is currently under investigation that MIS-C patients may have an underlying innate error of immunity (IEI), whether of monogenic, digenic, or even oligogenic origin.

2023 · BCSD Reis et al

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.