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GCH1 DRD Variants

From SNPedia

This page represents a work in progress, intended to systematically organize all variants in the GCH1 gene reported in the literature as leading to dopa-responsive dystonia (DRD). The two tables represent variants reported to act (and be inherited in) a dominant manner, or, recessively.

GCH1 DRD (dominantly inherited)
rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs104894433 c.262C>T, (p.Arg88Trp) 600225.0001 Ancestry v2


GCH1 DRD (recessively inherited)
rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs104894434 i5000652 c.662T>C (p.Met221Thr) 600225.0011 Ancestry v2