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: rs1057524157
rs1057524157
DEAF1
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
ABL1
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
KYNU
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
CLUAP1
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
CLUAP1
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
SCN8A
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
DHCR7
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
SYNGAP1 ; MIR5004
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
RHOBTB2
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
RAD51
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
CDKL5
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
HUWE1
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
PTCH1
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
DHCR7
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
SPATA5
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
PHF6
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