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: rs12049351
rs12049351 		1 1 229582254 intergenic variant C/G snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs12940923
rs12940923 		1 17 58292488 intergenic variant A/T snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs1390943
rs1390943
ATP6V1B2
1 8 20224379 intron variant T/G snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs3134931
rs3134931
NOTCH4
1 6 32222843 intron variant T/C snv 0.35 0.37 0.800 1.000 1 2013 2013
dbSNP: rs6042507
rs6042507
SIRPB2
1 20 1478415 missense variant T/A;C;G snv 9.6E-05; 4.0E-06; 0.91 0.800 1.000 1 2013 2013
dbSNP: rs6503905
rs6503905
SMG8
1 17 59210093 synonymous variant A/G snv 0.62 0.71 0.800 1.000 1 2013 2013
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.800 1.000 1 2013 2013
dbSNP: rs2680701
rs2680701
RNF43 ; TSPOAP1-AS1
1 17 58360940 missense variant G/A snv 0.14 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs28730837
rs28730837
MPO
2 1.000 0.080 17 58278036 missense variant G/A snv 1.2E-02 1.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs35897051
rs35897051
MPO
3 1.000 0.080 17 58270865 splice acceptor variant T/G snv 4.4E-03 4.6E-03 0.700 1.000 1 2013 2013
dbSNP: rs505102
rs505102
CFH
2 1 196650372 upstream gene variant T/C snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs6680396
rs6680396
CFH
3 1.000 0.040 1 196663340 intron variant A/G snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs8081967
rs8081967
TRIM37
1 17 58995340 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs9911753
rs9911753
PPM1E
1 17 58905813 intron variant G/A;T snv 0.700 1.000 1 2013 2013