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: rs7773477
rs7773477
ENPP1
1 1.000 0.160 6 131847857 intron variant G/A;T snv 1.8E-05; 5.3E-02; 1.9E-04 0.11 0.010 1.000 1 2014 2014
dbSNP: rs59461468
rs59461468
ABCC6
1 1.000 0.160 16 16150095 3 prime UTR variant C/G;T snv 8.2E-03 0.700 0
dbSNP: rs63750874
rs63750874
ABCC6
3 1.000 0.160 16 16150144 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs63750135
rs63750135
ABCC6
1 1.000 0.160 16 16150197 missense variant G/A;T snv 5.6E-05; 1.6E-05 0.700 0
dbSNP: rs63751279
rs63751279
ABCC6
5 0.925 0.200 16 16150204 missense variant C/T snv 6.0E-05 4.2E-05 0.700 0
dbSNP: rs72664280
rs72664280
ABCC6
1 1.000 0.160 16 16150211 frameshift variant T/- del 0.700 0
dbSNP: rs72653751
rs72653751
ABCC6
1 1.000 0.160 16 16150225 stop gained T/A snv 0.700 0
dbSNP: rs72664215
rs72664215
ABCC6
1 1.000 0.160 16 16150567 intron variant G/A;C snv 1.2E-05; 6.5E-05 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: rs1030872147
rs1030872147
ABCC6
1 1.000 0.160 16 16150600 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs63750763
rs63750763
ABCC6
1 1.000 0.160 16 16150604 synonymous variant G/A;C snv 6.1E-05 0.700 0
dbSNP: rs72547524
rs72547524
ABCC6
1 1.000 0.160 16 16150606 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1333662666
rs1333662666
ABCC6
4 1.000 0.160 16 16150640 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs1462269230
rs1462269230
ABCC6
1 1.000 0.160 16 16150657 missense variant C/A;T snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs72664238
rs72664238
ABCC6
1 1.000 0.160 16 16150663 frameshift variant T/- del 0.700 0
dbSNP: rs74315109
rs74315109
ABCC6
1 1.000 0.160 16 16150669 frameshift variant TCCGTGC/- delins 6.0E-05 7.7E-05 0.700 0
dbSNP: rs72664289
rs72664289
ABCC6
1 1.000 0.160 16 16150676 synonymous variant G/A snv 0.700 0
dbSNP: rs63750295
rs63750295
ABCC6
1 1.000 0.160 16 16150710 missense variant A/G snv 0.800 1.000 15 2000 2015
dbSNP: rs1448934731
rs1448934731
ABCC6
4 1.000 0.160 16 16150727 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs387906352
rs387906352
ABCC6
1 1.000 0.160 16 16150737 frameshift variant -/TTCT ins 4.0E-06 0.700 0
dbSNP: rs775319351
rs775319351
ABCC6
1 1.000 0.160 16 16150740 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs72664222
rs72664222
ABCC6
1 1.000 0.160 16 16150760 frameshift variant -/TCTT delins 0.700 0
dbSNP: rs387906859
rs387906859
ABCC6
2 0.925 0.160 16 16150765 missense variant G/T snv 0.800 1.000 15 2000 2015
dbSNP: rs947230593
rs947230593
ABCC6
1 1.000 0.160 16 16150768 missense variant C/T snv 0.700 0