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: rs146753226
rs146753226
0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 1.000 1 2020 2020