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: rs1057519642
rs1057519642
1.000 0.160 18 2697898 missense variant A/T snv
CUI: C1854114
Disease: Short nose
Short nose
0.700 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740
0.925 0.240 18 2674018 missense variant T/G snv
CUI: C1854114
Disease: Short nose
Short nose
0.700 1.000 1 2017 2017