GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Source: ALL
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: rs759304648
rs759304648
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009