Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045044
rs797045044
FLNA
T 0.700 CausalMutation CLINVAR A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 26804200

2016
dbSNP: rs797045044
rs797045044
FLNA
T 0.700 CausalMutation CLINVAR Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 26686323

2016