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: rs1057519300
rs1057519300
KIDINS220
1 1.000 2 8733447 stop gained C/T snv 0.700 0
dbSNP: rs1057519301
rs1057519301
KIDINS220
1 1.000 2 8731940 stop gained G/A snv 0.700 0
dbSNP: rs1057519302
rs1057519302
KIDINS220
1 1.000 2 8731515 frameshift variant -/A delins 0.700 0
dbSNP: rs1131692229
rs1131692229
KIDINS220
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs1553305080
rs1553305080
KIDINS220
1 1.000 2 8731898 stop gained G/A snv 0.700 0