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: rs757613817
rs757613817
1.000 8 125182183 frameshift variant T/- delins 1.7E-04 2.0E-04
CUI: C4310647
Disease: SECKEL SYNDROME 10
SECKEL SYNDROME 10
0.700 0
dbSNP: rs773917653
rs773917653
1.000 8 125366837 frameshift variant -/AGGG delins
CUI: C4310647
Disease: SECKEL SYNDROME 10
SECKEL SYNDROME 10
0.700 0