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: rs1002088882
rs1002088882
ABCC6
4 0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06 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: 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: rs1187315015
rs1187315015
ABCC6 ; LOC105371100
4 1.000 0.160 16 16214323 splice donor variant C/T snv 2.6E-05 3.5E-05 0.700 0
dbSNP: rs1192373126
rs1192373126
ABCC6
3 1.000 0.160 16 16178965 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121918467
rs121918467
PTPN11
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs1297171898
rs1297171898
ABCC6
5 1.000 0.160 16 16157662 splice region variant TCTCTCCT/- delins 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: rs1333662666
rs1333662666
ABCC6
4 1.000 0.160 16 16150640 stop gained C/A;T snv 4.0E-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: rs1555506740
rs1555506740
ABCC6
4 1.000 0.160 16 16150774 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1555507893
rs1555507893
ABCC6
5 0.925 0.200 16 16157675 frameshift variant -/GGAT delins 0.700 0
dbSNP: rs1555507903
rs1555507903
ABCC6
4 1.000 0.160 16 16157716 frameshift variant -/GTCGGTATCTTAG delins 0.700 0
dbSNP: rs1555507925
rs1555507925
ABCC6
4 1.000 0.160 16 16157768 stop gained C/T snv 0.700 0
dbSNP: rs1555507927
rs1555507927
ABCC6
4 1.000 0.160 16 16157769 frameshift variant -/G ins 0.700 0
dbSNP: rs1555508604
rs1555508604
ABCC6
5 0.925 0.200 16 16161437 splice donor variant C/T snv 0.700 0
dbSNP: rs1555509477
rs1555509477
ABCC6
4 1.000 0.160 16 16165805 missense variant C/T snv 0.700 0
dbSNP: rs1555509485
rs1555509485
ABCC6
3 1.000 0.160 16 16165810 missense variant G/A snv 0.700 0
dbSNP: rs1555512158
rs1555512158
ABCC6
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs1555512419
rs1555512419
ABCC6
4 0.925 0.200 16 16178830 frameshift variant C/- delins 0.700 0
dbSNP: rs1555512484
rs1555512484
ABCC6
5 1.000 0.160 16 16178955 missense variant A/G snv 0.700 0
dbSNP: rs1555513073
rs1555513073
ABCC6
3 1.000 0.160 16 16182429 missense variant T/G snv 0.700 0
dbSNP: rs1555513085
rs1555513085
ABCC6
8 0.925 0.200 16 16182486 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs1555513222
rs1555513222
ABCC6
4 0.925 0.200 16 16182896 frameshift variant C/- delins 0.700 0