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: rs1555977248
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 2008 2015
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2000 2017
dbSNP: rs1555478331
rs1555478331
CREBBP
16 3757990 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1963 2017
dbSNP: rs1554787366
rs1554787366
COL27A1
9 114167926 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1994 2017
dbSNP: rs1554643463
rs1554643463
PUF60
8 143818387 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1555809836
rs1555809836
ADNP
20 50892215 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2001 2017
dbSNP: rs1189399471
rs1189399471
ASPM
1.000 1 197103099 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2002 2016
dbSNP: rs1553535063
rs1553535063
NDUFB3
2 201085517 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs779617179
rs779617179
NRP2
2 205763747 frameshift variant T/- del 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1555047506
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017
dbSNP: rs1555529572
rs1555529572
ANKRD11
1.000 16 89284912 frameshift variant GTGCTGGT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 17 2004 2017
dbSNP: rs1553551705
rs1553551705
SATB2
1.000 2 199349065 frameshift variant GT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 1989 2017
dbSNP: rs1556779417
rs1556779417
RBM10
1.000 X 47181541 frameshift variant GT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1970 2017
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
1.000 2 135133919 frameshift variant GT/- delins 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2005 2013
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1555953882
rs1555953882
DDX3X
1.000 X 41345507 frameshift variant GACA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1554599036
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs786205154
rs786205154
ETV6
1.000 0.120 12 11885921 coding sequence variant GAACA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
dbSNP: rs34002892
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2005 2016
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 27 1988 2017
dbSNP: rs1555240376
rs1555240376
MED13L
1.000 12 115966189 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1971 2018
dbSNP: rs1553249737
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2010 2014
dbSNP: rs869312953
rs869312953
JAK1
0.851 0.120 1 64846735 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
dbSNP: rs574622908
rs574622908
KMT2D
1.000 12 49046358 stop gained G/C;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1968 2016