Source: ALL

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: rs1191926239
rs1191926239
TLR4
0.807 0.200 9 117704539 missense variant C/G snv 4.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2009 2009
dbSNP: rs1217401
rs1217401
AP4B1 ; AP4B1-AS1
0.925 0.080 1 113896329 missense variant A/G snv 0.30 0.42
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2005 2005
dbSNP: rs121918399
rs121918399
APOE
0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
dbSNP: rs1477816966
rs1477816966
NOS3
1.000 0.040 7 151010703 missense variant A/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2005 2005
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2011 2011
dbSNP: rs190853081
rs190853081
APOE
0.925 0.080 19 44909083 missense variant G/A snv 2.0E-04 5.6E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
dbSNP: rs201093713
rs201093713
PAX8 ; PAX8-AS1
0.925 0.120 2 113241628 missense variant C/G;T snv 2.4E-04
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
dbSNP: rs4754
rs4754
SPP1
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2009 2009
dbSNP: rs765462548
rs765462548
STN1
0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2019 2019
dbSNP: rs1060499939
rs1060499939
SPAST
0.882 0.120 2 32137172 missense variant G/C;T snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs1555303073
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs28936415
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs564185858
rs564185858
ADD3
0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs767399782
rs767399782
TUBB4A
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs80338700
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs11728697
rs11728697
SPP1
0.925 0.080 4 87977789 non coding transcript exon variant C/T snv 0.54 0.46
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014