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: rs1131692272
rs1131692272
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs374993554
rs374993554
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
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: rs773722162
rs773722162
0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs369634007
rs369634007
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1.000 1 2016 2016
dbSNP: rs397507542
rs397507542
0.790 0.320 12 112489069 missense variant G/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1560092224
rs1560092224
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1555038111
rs1555038111
0.701 0.480 11 118478153 stop gained T/G snv
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: rs878853165
rs878853165
0.882 0.200 19 12843558 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs786205567
rs786205567
0.925 0.120 3 129500070 splice donor variant T/C 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: rs1135402758
rs1135402758
1.000 9 131199023 intron variant T/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs904200599
rs904200599
1.000 20 13534116 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1555103652
rs1555103652
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs886041095
rs886041095
0.827 0.160 12 13571930 missense variant C/T snv
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: rs886041097
rs886041097
0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs531630376
rs531630376
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1.000 1 2019 2019
dbSNP: rs1135402760
rs1135402760
0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1.000 1 2019 2019
dbSNP: rs782661984
rs782661984
0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1553763618
rs1553763618
0.925 0.040 1 145977482 splice acceptor variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1557045296
rs1557045296
1.000 X 153693971 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0