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: rs1557196978
rs1557196978
0.851 0.120 X 154432444 missense variant T/G snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018