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: rs1131691655
rs1131691655
1 1.000 0.040 2 178609769 stop gained G/C snv 0.700 0
dbSNP: rs1553692290
rs1553692290
1 1.000 0.040 2 178609842 stop gained C/T snv 0.700 0
dbSNP: rs371678190
rs371678190
3 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs397517689
rs397517689
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs72648250
rs72648250
4 0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 0.700 0
dbSNP: rs727503533
rs727503533
1 1.000 0.040 2 178531665 frameshift variant C/- del 0.700 0
dbSNP: rs727503607
rs727503607
4 0.882 0.160 2 178605642 stop gained C/A snv 0.700 0
dbSNP: rs727504856
rs727504856
2 1.000 0.040 2 178559330 frameshift variant CTTT/- del 0.700 0
dbSNP: rs730880365
rs730880365
3 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 0.700 0
dbSNP: rs869178171
rs869178171
7 0.790 0.200 2 178563475 stop gained C/A snv 0.700 0
dbSNP: rs878854371
rs878854371
1 1.000 0.040 2 178634463 frameshift variant TTTC/- delins 0.700 0
dbSNP: rs974510652
rs974510652
1 1.000 0.040 2 178552194 stop gained C/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs368779151
rs368779151
1 1.000 0.040 2 178531566 missense variant T/C snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018