Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140119177
rs140119177
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0