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: rs1010184002
rs1010184002
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1014959895
rs1014959895
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1057518849
rs1057518849
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1057519521
rs1057519521
0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1131692272
rs1131692272
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1135402758
rs1135402758
1.000 9 131199023 intron variant T/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1135402761
rs1135402761
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1163944538
rs1163944538
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1189909394
rs1189909394
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs121434616
rs121434616
0.925 0.080 X 120544179 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1223073957
rs1223073957
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1251713297
rs1251713297
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1352010373
rs1352010373
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs138632121
rs138632121
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs142110773
rs142110773
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs147030232
rs147030232
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs147484110
rs147484110
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs149830411
rs149830411
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1553196096
rs1553196096
1 22086463 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1553196101
rs1553196101
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1553196134
rs1553196134
0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1553200431
rs1553200431
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1553511224
rs1553511224
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0