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: rs886039392
rs886039392
ITPR1
0.882 0.240 3 4645678 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2001 2017
dbSNP: rs797045586
rs797045586
FOXP1
0.925 0.120 3 70972666 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2003 2017
dbSNP: rs1553862987
rs1553862987
SOX2 ; SOX2-OT
3 181712694 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2005 2016
dbSNP: rs1376334317
rs1376334317
STAG1
0.925 3 136473546 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2012 2017
dbSNP: rs397509425
rs397509425
GMPPB
0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2009 2015
dbSNP: rs397518483
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2007 2016
dbSNP: rs1553923787
rs1553923787
PPP3CA
1.000 4 101083202 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1987 2017
dbSNP: rs1131692280
rs1131692280
PKD2
0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 1998 2015
dbSNP: rs760048191
rs760048191
MSMO1
1.000 4 165341795 missense variant A/C;G snv 1.2E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1996 2015
dbSNP: rs1553878198
rs1553878198
RBPJ
1.000 4 26406245 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs917027829
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1984 2014
dbSNP: rs1554139771
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2007 2016
dbSNP: rs137852863
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2000 2016
dbSNP: rs1554062562
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 1996 2017
dbSNP: rs1554189042
rs1554189042
NSD1
1.000 5 177210101 stop gained -/AG ins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2002 2013
dbSNP: rs116128702
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs1554109707
rs1554109707
FLT4
1.000 5 180613051 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1998 2013
dbSNP: rs1554117456
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2011 2015
dbSNP: rs375053470
rs375053470
DNAH5
5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs755407407
rs755407407
DNAH5
0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs981267400
rs981267400
DNAH5
5 13871562 splice donor variant A/G snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs1554015303
rs1554015303
NIPBL
1.000 0.080 5 36976342 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2004 2015
dbSNP: rs587777695
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2014 2017
dbSNP: rs1554231814
rs1554231814
ARID1B
6 157184262 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017