Research
Tag

Neuropathy

5 genetic variants with this tag.

RSID Gene Description Category
rs104894664 TTR Ala45Thr (A25T) Rare pathogenic TTR missense variant causing hereditary transthyretin amyloid... Cardiomyopathy & Structural Heart Strong
rs1801198 TCN2 Pro259Arg (C776G) Transcobalamin II variant affecting cellular delivery of vitamin B12 via holo... Vitamins & Nutrient Absorption Strong
rs1421405659 MYBPC1 Leu259Pro Ultra-rare dominant missense variant in slow skeletal myosin-binding protein ... Fitness & Body Strong
rs397514538 SLC52A2 Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau... Vitamins & Nutrient Absorption Established
rs28933979 TTR Val30Met (V30M) Most common pathogenic TTR variant causing hereditary transthyretin amyloidos... Longevity & Aging Established