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: rs1569547876
rs1569547876
MAGT1
4 1.000 X 77841252 stop gained G/A snv 0.700 0
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
8 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1567608853
rs1567608853
CYBA
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
17 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0