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: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
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: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 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: rs114303883
rs114303883
ABCC6
8 1.000 0.160 16 16182534 stop gained C/A;T snv 9.1E-05 4.2E-05 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: rs1357894483
rs1357894483
ABCC6
3 0.925 0.200 16 16182506 missense variant T/C 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: rs1481200467
rs1481200467
ABCC6
7 0.925 0.200 16 16173393 stop gained G/C;T snv 4.0E-06 7.0E-06 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: 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: rs28939701
rs28939701
ABCC6
12 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 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: rs63749794
rs63749794
ABCC6
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63749856
rs63749856
ABCC6
11 0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05 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: rs63750273
rs63750273
ABCC6
9 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0