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: rs28305
rs28305
AGXT2
1 5 35044193 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1357894483
rs1357894483
ABCC6
3 0.925 0.200 16 16182506 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs72653790
rs72653790
ABCC6
3 1.000 0.160 16 16178884 missense variant C/T snv 0.700 0
dbSNP: rs1311228469
rs1311228469
ABCC6
4 1.000 0.160 16 16157755 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1448934731
rs1448934731
ABCC6
4 1.000 0.160 16 16150727 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs1555514927
rs1555514927
ABCC6
4 1.000 0.160 16 16190280 frameshift variant C/- delins 0.700 0
dbSNP: rs63750125
rs63750125
ABCC6
4 1.000 0.160 16 16159541 missense variant G/T snv 0.700 0
dbSNP: rs63750146
rs63750146
ABCC6
4 0.925 0.200 16 16163084 missense variant C/T snv 5.2E-05 2.8E-05 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: rs72664216
rs72664216
ABCC6
4 1.000 0.160 16 16203469 frameshift variant -/A delins 0.700 0
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: rs201766106
rs201766106
ABCC6 ; LOC105371100
5 1.000 0.160 16 16214428 missense variant G/A snv 4.6E-04 3.0E-04 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: rs72653801
rs72653801
ABCC6
5 1.000 0.160 16 16169810 missense variant G/A;T snv 5.7E-06 0.700 0
dbSNP: rs72664205
rs72664205
ABCC6
5 1.000 0.160 16 16203408 splice donor variant A/- del 0.700 0
dbSNP: rs72664236
rs72664236
ABCC6
5 0.925 0.200 16 16155002 frameshift variant C/- delins 0.700 0
dbSNP: rs74315110
rs74315110
ABCC6
5 0.925 0.200 16 16221681 inframe deletion TAGCCCCGG/- delins 0.700 0
dbSNP: rs879956688
rs879956688
ABCC6
5 1.000 0.160 16 16219655 stop gained C/A;T snv 1.8E-05; 7.8E-04 0.700 0
dbSNP: rs1555523841
rs1555523841
ABCC6
6 0.882 0.280 16 16223398 splice donor variant C/A snv 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