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: rs1135402758
rs1135402758
1.000 9 131199023 intron variant T/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1064795104
rs1064795104
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1.000 2 2013 2014
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: 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: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A 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: 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: 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: 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: rs1553538917
rs1553538917
0.882 0.120 2 199272423 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1554196416
rs1554196416
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1554985320
rs1554985320
0.925 0.240 11 31801619 stop gained C/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: rs1565977796
rs1565977796
0.882 0.120 13 26337623 stop gained C/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs201037487
rs201037487
0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs267607093
rs267607093
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs367557471
rs367557471
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs368313959
rs368313959
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs387906692
rs387906692
0.752 0.480 17 68530405 stop gained C/T 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: rs752738546
rs752738546
1.000 X 41343802 stop gained G/A;T snv 5.6E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs869312696
rs869312696
0.882 0.160 18 33739086 stop gained C/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: rs886041097
rs886041097
0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0