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: rs1557042808
rs1557042808
1.000 X 48905114 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 1996 2016