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: rs1565572949
rs1565572949
DHH ; LOC105369759
4 0.851 0.160 12 49090039 frameshift variant G/- del 0.700 1.000 1 2018 2018
dbSNP: rs864309645
rs864309645
SOHLH1
2 0.925 0.040 9 135695220 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs864309646
rs864309646
SOHLH1
2 0.925 0.040 9 135699441 stop gained G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs111033806
rs111033806
GALT
4 0.882 0.160 9 34649523 stop gained G/A;T snv 0.700 0
dbSNP: rs587777872
rs587777872
MCM9
3 0.882 0.080 6 118924038 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1165860389
rs1165860389
NUP107
2 0.925 0.080 12 68715720 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2018 2018