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: rs11213999
rs11213999
11 111763868 intron variant C/A snv 0.13
CUI: C0262478
Disease: Wrinkled face
Wrinkled face
0.700 1.000 1 2018 2018