Source: CURATED

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: rs1555187440
rs1555187440
KMT2D
1.000 12 49031293 frameshift variant TT/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1555648564
rs1555648564
PPM1D
1.000 17 60656807 frameshift variant TG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2008 2017
dbSNP: rs747661902
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 1998 2015
dbSNP: rs777537805
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs797044852
rs797044852
FKBP10
17 41821027 frameshift variant TG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2010 2015
dbSNP: rs777218310
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2014 2018
dbSNP: rs1429181351
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2005 2016
dbSNP: rs1554603550
rs1554603550
CHD7
8 60850514 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1988 2015
dbSNP: rs869025195
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2010 2016
dbSNP: rs926748713
rs926748713
TRMU
1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2009 2015
dbSNP: rs1555543296
rs1555543296
MYO15A ; LOC105371566
17 18135775 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1995 2016
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1968 2016
dbSNP: rs397517172
rs397517172
SOS1
0.925 0.160 2 39056704 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 2002 2016
dbSNP: rs1555447237
rs1555447237
NR2F2
1.000 15 96334573 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1999 2017
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1968 2013
dbSNP: rs368934219
rs368934219
AARS2 ; TMEM151B
1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2011 2014
dbSNP: rs1026300967
rs1026300967
NTRK1
1.000 1 156868246 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2012 2017
dbSNP: rs267607387
rs267607387
KRT12 ; LOC105371777
1.000 0.080 17 40866802 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 1997 2008
dbSNP: rs1555605893
rs1555605893
SMARCE1
17 40637502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1377989582
rs1377989582
CHD4
1.000 12 6587756 missense variant T/A;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2010 2017
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1995 2015
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1999 2016
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
dbSNP: rs886040988
rs886040988
CHD7
1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016