Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2266788
rs2266788
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
0.010 1.000 1 2010 2010