Genetics Genetics Research
CHROMOSOME 21 CBS 21q22.3 GENE VIEW CBS · 21q22.3 21q21 21q23 rs794727083 — ~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 rs794727083 C / C · CBS · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C C Cytosine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs794727083

Gene: CBS — Cystathionine Beta-Synthase Chr 21:43059231 21q22.3 Frameshift Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies0

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Studies0

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

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Unused Studies0 ▼

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