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: rs1553704696
rs1553704696
1.000 2 229859313 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 21 1998 2017