Source: CLINVAR

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: rs119481077
rs119481077
0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06
17-Hydroxysteroid Dehydrogenase Deficiency
0.800 1.000 5 1998 2013
dbSNP: rs201115371
rs201115371
0.925 0.240 9 96254864 splice region variant T/A snv 3.4E-04 3.7E-04
17-Hydroxysteroid Dehydrogenase Deficiency
0.700 1.000 4 1996 2012
dbSNP: rs142236065
rs142236065
1.000 0.240 9 96245352 missense variant G/A snv 1.6E-05 3.5E-05
17-Hydroxysteroid Dehydrogenase Deficiency
0.700 0
dbSNP: rs780178733
rs780178733
1.000 0.240 9 96254924 missense variant T/C;G snv 1.6E-05; 1.6E-05
17-Hydroxysteroid Dehydrogenase Deficiency
0.700 0
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 1.000 2 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe 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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 1.000 1 2017 2017
dbSNP: rs768663992
rs768663992
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 1.000 1 2017 2017
dbSNP: rs1057524820
rs1057524820
0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs11555217
rs11555217
0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs1554121443
rs1554121443
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs1554504663
rs1554504663
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs1555429629
rs1555429629
0.763 0.200 15 40729632 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs1555955296
rs1555955296
0.742 0.320 X 18628716 stop gained C/T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs1557036768
rs1557036768
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs779896782
rs779896782
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs796052243
rs796052243
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0
dbSNP: rs864309532
rs864309532
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 0