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: rs121918643
rs121918643
SPTA1
2 0.925 0.080 1 158680641 missense variant A/G snv 6.4E-05 1.8E-04 0.800 1.000 1 1991 1991
dbSNP: rs121918644
rs121918644
SPTA1
1 1.000 0.080 1 158685229 missense variant T/C snv 3.2E-05 1.0E-04 0.800 1.000 1 1991 1991
dbSNP: rs121918637
rs121918637
SPTA1
2 0.925 0.080 1 158685237 missense variant C/A snv 0.700 0
dbSNP: rs121918641
rs121918641
SPTA1
3 0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05 0.700 0
dbSNP: rs121918642
rs121918642
SPTA1
2 0.925 0.080 1 158685290 missense variant G/A;T snv 0.700 0
dbSNP: rs121918647
rs121918647
SPTB
2 0.925 0.080 14 64767829 missense variant G/C snv 0.700 0
dbSNP: rs1394141324
rs1394141324
SPTA1
1 1.000 0.080 1 158639587 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1557961718
rs1557961718
SPTA1
1 1.000 0.080 1 158653269 splice region variant C/T snv 0.700 0
dbSNP: rs757147440
rs757147440
SPTA1
1 1.000 0.080 1 158656669 intron variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs1215600806
rs1215600806
ALPL
4 0.851 0.120 1 21564100 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918010
rs121918010
ALPL
5 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs121918014
rs121918014
ALPL
5 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs121918015
rs121918015
ALPL
3 0.882 0.160 1 21563135 missense variant C/T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs138690664
rs138690664
ALPL
4 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs1416572796
rs1416572796
ALPL
4 0.851 0.120 1 21568170 missense variant G/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143358506
rs143358506
ALPL
4 0.851 0.120 1 21560674 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs146053308
rs146053308
ATP12A
2 0.925 0.120 13 24690362 missense variant G/A;C snv 2.4E-05; 1.2E-04 7.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs146927457
rs146927457
ATP12A
2 0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs201250289
rs201250289
ALPL
1 1.000 0.080 1 21564102 stop gained C/G;T snv 4.0E-06; 4.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs567349821
rs567349821
ALPL
3 0.925 0.120 1 21575812 missense variant C/G;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs746273959
rs746273959
ALPL
1 1.000 0.080 1 21563115 stop gained C/A snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs768053120
rs768053120
ALPL
1 1.000 0.080 1 21577401 missense variant C/A;G;T snv 1.2E-05; 4.1E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs776304194
rs776304194
ALPL
1 1.000 0.080 1 21575804 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 2019 2019