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: rs201002930
rs201002930
0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 1.000 1 2018 2018