Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555600214
rs1555600214
UNC13D
5 0.925 0.040 17 75830577 splice donor variant C/T snv 0.700 0
dbSNP: rs1555601863
rs1555601863
UNC13D
5 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0