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: rs199469465
rs199469465
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails
Pathological Conditions, Signs and Symptoms 0.700 0