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: rs1555639568
rs1555639568
1.000 18 10758112 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2007 2017
dbSNP: rs587777450
rs587777450
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2007 2017
dbSNP: rs745895175
rs745895175
1.000 18 10680240 frameshift variant G/- delins 1.2E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2007 2017