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: rs1553690452
rs1553690452
SLC6A1
1.000 3 11028845 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1998 2016
dbSNP: rs267607048
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2009 2015
dbSNP: rs1280482569
rs1280482569
DOCK6 ; LOC105372273
1.000 19 11211990 splice donor variant ACC/- delins 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2013 2017
dbSNP: rs568049240
rs568049240
DOCK6 ; LOC105372273
1.000 19 11213187 stop gained C/A;T snv 7.3E-05; 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2013 2017
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs376607329
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs397507529
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs28933386
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs397507541
rs397507541
PTPN11
0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs397507547
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs1553259463
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2009 2016
dbSNP: rs1555721837
rs1555721837
CCDC151
1.000 19 11423933 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1994 2014
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
1.000 9 114307746 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1994 2017
dbSNP: rs1555379911
rs1555379911
CHAMP1
1.000 13 114325794 stop gained C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2011 2016
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
1.000 3 114350821 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2009 2017
dbSNP: rs1554596397
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2000 2015
dbSNP: rs1555240361
rs1555240361
MED13L
1.000 12 115966138 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555240376
rs1555240376
MED13L
1.000 12 115966189 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555243099
rs1555243099
MED13L
1.000 12 115982526 missense variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555244216
rs1555244216
MED13L
1.000 12 115987290 splice acceptor variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555247469
rs1555247469
MED13L
1.000 12 116006413 splice acceptor variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853
MED13L
1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555907215
rs1555907215
MSL3
1.000 X 11768608 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2005 2017