Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554317931
rs1554317931
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly
0.700 0
dbSNP: rs780336679
rs780336679
0.925 0.080 11 46900261 splice donor variant C/T snv 2.4E-05 1.4E-05
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
0.700 1.000 1 2017 2017
dbSNP: rs1135401744
rs1135401744
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.700 1.000 1 2017 2017
dbSNP: rs1553154130
rs1553154130
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.700 0
dbSNP: rs28934586
rs28934586
0.827 0.200 8 142875012 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.040 1.000 4 1991 2010
dbSNP: rs1206627543
rs1206627543
0.925 0.200 8 142912592 missense variant C/T snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2017 2017
dbSNP: rs1245981952
rs1245981952
0.925 0.200 8 142879623 missense variant A/G snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2016 2016
dbSNP: rs1311444460
rs1311444460
0.925 0.200 8 142912585 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 1991 1991
dbSNP: rs1348178413
rs1348178413
0.925 0.200 8 142912570 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2017 2017
dbSNP: rs140336749
rs140336749
0.925 0.200 8 142877191 missense variant G/A snv 1.6E-04 3.5E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2014 2014
dbSNP: rs1447069098
rs1447069098
0.882 0.240 8 142874997 missense variant C/T snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2017 2017
dbSNP: rs146124466
rs146124466
0.882 0.200 8 142875767 stop gained G/A snv 5.6E-05 3.1E-04
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2010 2010
dbSNP: rs149881706
rs149881706
0.925 0.200 8 142875838 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2014 2014
dbSNP: rs387907572
rs387907572
0.851 0.240 8 142876278 missense variant G/A snv 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2014 2014
dbSNP: rs387907573
rs387907573
0.925 0.200 8 142876299 missense variant A/G;T snv 4.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2008 2008
dbSNP: rs387907574
rs387907574
0.925 0.200 8 142876267 missense variant C/T snv
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2014 2014
dbSNP: rs5282
rs5282
0.882 0.200 8 142879627 missense variant C/G snv 2.4E-05 1.4E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2016 2016
dbSNP: rs568758408
rs568758408
0.925 0.200 6 32040183 missense variant T/C snv 4.1E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2014 2014
dbSNP: rs61758594
rs61758594
0.882 0.200 8 142917654 missense variant G/C snv 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2016 2016
dbSNP: rs775479837
rs775479837
0.925 0.200 8 142877197 stop gained G/A snv 8.0E-06 2.8E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 1.000 1 2016 2016
dbSNP: rs10786714
rs10786714
10 102838849 intron variant G/C snv 0.25
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
0.700 1.000 1 2019 2019
dbSNP: rs114811870
rs114811870
6 31357161 5 prime UTR variant C/T snv 4.2E-02 8.2E-02
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
0.700 1.000 1 2019 2019
dbSNP: rs115310850
rs115310850
6 31855479 downstream gene variant C/A;T snv
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
0.700 1.000 1 2019 2019
dbSNP: rs115448006
rs115448006
6 30701491 intron variant G/T snv 1.5E-02
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
0.700 1.000 1 2019 2019