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: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs28305
rs28305
AGXT2
1 5 35044193 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1006994885
rs1006994885
ABCC6
5 1.000 0.160 16 16150577 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1555507893
rs1555507893
ABCC6
5 0.925 0.200 16 16157675 frameshift variant -/GGAT delins 0.700 0
dbSNP: rs1555512484
rs1555512484
ABCC6
5 1.000 0.160 16 16178955 missense variant A/G snv 0.700 0
dbSNP: rs1555514439
rs1555514439
ABCC6
5 0.925 0.200 16 16188868 frameshift variant TGGGCCTTG/C delins 0.700 0
dbSNP: rs1555514927
rs1555514927
ABCC6
4 1.000 0.160 16 16190280 frameshift variant C/- delins 0.700 0
dbSNP: rs1555523841
rs1555523841
ABCC6
6 0.882 0.280 16 16223398 splice donor variant C/A snv 0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs60791294
rs60791294
ABCC6
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63750125
rs63750125
ABCC6
4 1.000 0.160 16 16159541 missense variant G/T snv 0.700 0
dbSNP: rs63750410
rs63750410
ABCC6
9 0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05 0.700 0
dbSNP: rs63750428
rs63750428
ABCC6
6 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
dbSNP: rs63750622
rs63750622
ABCC6
9 0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05 0.700 0
dbSNP: rs63750759
rs63750759
ABCC6
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
dbSNP: rs63751001
rs63751001
ABCC6
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs67561842
rs67561842
ABCC6
6 0.925 0.160 16 16178919 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs72650700
rs72650700
ABCC6
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs72653704
rs72653704
ABCC6
4 1.000 0.160 16 16169827 stop gained G/C;T snv 0.700 0
dbSNP: rs72653763
rs72653763
ABCC6
4 1.000 0.160 16 16202001 missense variant C/A;G snv 8.0E-06 0.700 0
dbSNP: rs72653776
rs72653776
ABCC6
4 1.000 0.160 16 16187210 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs72653780
rs72653780
ABCC6
5 1.000 0.160 16 16182887 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs72653783
rs72653783
ABCC6
7 1.000 0.160 16 16182566 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs72653790
rs72653790
ABCC6
3 1.000 0.160 16 16178884 missense variant C/T snv 0.700 0