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: rs1555155110
rs1555155110
ARID2 ; LOC105369745
1 1.000 0.040 12 45851112 stop gained C/T snv 0.700 0
dbSNP: rs1555913337
rs1555913337
BCOR
1 1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 0.700 0
dbSNP: rs1555919960
rs1555919960
BCOR
1 1.000 0.040 X 40074947 frameshift variant -/GT ins 0.700 0
dbSNP: rs780712297
rs780712297
BCOR
1 1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs587778223
rs587778223
CYLD ; LOC105371251
2 0.925 0.120 16 50784435 missense variant G/A snv 3.2E-05 2.1E-05 0.010 1.000 1 2015 2015