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: rs1555922391
rs1555922391
1.000 X 41151058 splice donor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 5 2014 2017
dbSNP: rs1555933969
rs1555933969
1.000 X 41216161 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 0