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: rs1276051624
rs1276051624
SLC4A11
1 1.000 0.080 20 3234280 missense variant C/T snv 4.0E-06 0.710 1.000 13 2006 2016
dbSNP: rs121909387
rs121909387
SLC4A11
2 0.925 0.080 20 3228684 missense variant C/T snv 4.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs121909388
rs121909388
SLC4A11
2 0.925 0.080 20 3230258 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs121909389
rs121909389
SLC4A11
2 0.925 0.080 20 3230587 missense variant C/T snv 4.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs121909391
rs121909391
SLC4A11
2 0.925 0.080 20 3228260 missense variant G/A snv 8.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs121909392
rs121909392
SLC4A11
2 0.925 0.080 20 3228259 missense variant C/T snv 1.2E-05 0.700 1.000 12 2006 2016
dbSNP: rs1298347142
rs1298347142
SLC4A11
1 1.000 0.080 20 3231520 missense variant G/A snv 7.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs1465111896
rs1465111896
SLC4A11
1 1.000 0.080 20 3228630 missense variant G/A snv 0.700 1.000 12 2006 2016
dbSNP: rs757244518
rs757244518
SLC4A11
1 1.000 0.080 20 3228395 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs759667344
rs759667344
SLC4A11
1 1.000 0.080 20 3233936 missense variant G/A snv 8.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs762942751
rs762942751
SLC4A11
1 1.000 0.080 20 3233594 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 12 2006 2016
dbSNP: rs766567944
rs766567944
SLC4A11
1 1.000 0.080 20 3228537 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 12 2006 2016
dbSNP: rs780171125
rs780171125
SLC4A11
1 1.000 0.080 20 3230969 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 12 2006 2016
dbSNP: rs797045107
rs797045107
SLC4A11
1 1.000 0.080 20 3234173 frameshift variant TGGCGAAGC/G delins 0.700 1.000 1 2008 2008
dbSNP: rs1422526172
rs1422526172
SLC4A11
1 1.000 0.080 20 3228367 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1482631297
rs1482631297
SLC4A11
1 1.000 0.080 20 3234227 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs566507872
rs566507872
SLC4A11
1 1.000 0.080 20 3233949 missense variant G/A;T snv 1.2E-05; 1.2E-05 0.700 0
dbSNP: rs749826950
rs749826950
SLC4A11
1 1.000 0.080 20 3229137 missense variant T/C;G snv 2.4E-05 0.700 0
dbSNP: rs752287261
rs752287261
SLC4A11
1 1.000 0.080 20 3234176 missense variant C/T snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs757553189
rs757553189
SLC4A11
1 1.000 0.080 20 3228685 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1191074716
rs1191074716
SLC4A11
1 1.000 0.080 20 3231514 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs200106947
rs200106947
SLC4A11
1 1.000 0.080 20 3234786 missense variant C/A;T snv 1.2E-04; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs532728316
rs532728316
SLC4A11
3 0.882 0.080 20 3230205 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs767468885
rs767468885
DNAH8
2 0.925 0.080 6 38761702 missense variant G/A snv 5.5E-06 7.0E-06 0.010 1.000 1 2019 2019