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: rs1562168768
rs1562168768
QRSL1
1 1.000 6 106649042 missense variant G/T snv 0.700 1.000 2 2016 2018
dbSNP: rs1370579526
rs1370579526
TRIAP1 ; GATC
1 1.000 12 120446808 start lost T/G snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1562169661
rs1562169661
QRSL1
1 1.000 6 106652238 missense variant CCAGAAATCC/ACAAAAATCA mnv 0.700 1.000 1 2018 2018
dbSNP: rs1562173313
rs1562173313
QRSL1
1 1.000 6 106663098 missense variant GC/TT mnv 0.700 1.000 1 2018 2018
dbSNP: rs376766195
rs376766195
GATB
1 1.000 4 151719458 missense variant A/C snv 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs565910322
rs565910322
GATB
1 1.000 4 151716935 frameshift variant CT/- del 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs763443331
rs763443331
QRSL1
1 1.000 6 106649199 stop gained C/A;T snv 1.2E-05 7.0E-06 0.700 1.000 1 2018 2018