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: rs200287952
rs200287952
2 1.000 2 227277511 missense variant G/A snv 1.1E-04 1.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs56254331
rs56254331
1 19 41320115 intron variant A/C;G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs760545501
rs760545501
1 2 224359374 regulatory region variant C/T snv 1.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs1441937959
rs1441937959
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1556411578
rs1556411578
4 X 108595507 coding sequence variant AAGGTGACA/- delins 0.700 0
dbSNP: rs1556463583
rs1556463583
2 X 108695350 frameshift variant -/A delins 0.700 0
dbSNP: rs1559643753
rs1559643753
2 1.000 0.120 2 227108597 missense variant C/T snv 0.700 0
dbSNP: rs1569497030
rs1569497030
2 1.000 X 108615026 splice donor variant T/G snv 0.700 0
dbSNP: rs199469465
rs199469465
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs533297350
rs533297350
5 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs569681869
rs569681869
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs779593707
rs779593707
2 1 16049884 stop gained -/AATA delins 1.2E-05 7.0E-06 0.700 0
dbSNP: rs10969913
rs10969913
3 1.000 0.080 9 30866810 intergenic variant A/G snv 6.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs11122573
rs11122573
3 1.000 0.080 1 230701434 upstream gene variant C/T snv 8.0E-02 0.010 1.000 1 2020 2020
dbSNP: rs12118043
rs12118043
1 1 161677034 non coding transcript exon variant C/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs121909585
rs121909585
C3
4 0.925 0.120 19 6692971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121912861
rs121912861
4 0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1285576172
rs1285576172
1 2 227284345 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs137876000
rs137876000
1 8 90042763 missense variant G/A snv 2.2E-04 1.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs147121532
rs147121532
1 1 230316103 3 prime UTR variant T/C snv 5.1E-03 0.010 1.000 1 2020 2020
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2015 2015
dbSNP: rs17055178
rs17055178
3 1.000 0.080 5 157976402 downstream gene variant A/G snv 7.2E-02 0.010 1.000 1 2020 2020
dbSNP: rs2277798
rs2277798
3 0.925 0.120 21 42403997 missense variant A/G snv 0.55 0.60 0.010 1.000 1 2015 2015
dbSNP: rs398123643
rs398123643
2 1.000 0.120 21 45989626 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs4657093
rs4657093
1 1 161723213 intron variant T/C snv 0.18 0.010 1.000 1 2013 2013