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: rs1042714
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2005 2005
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: rs7964786
rs7964786
MLEC
1.000 0.040 12 120694297 intron variant C/T snv 7.3E-05; 0.43 0.49
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
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: rs1126616
rs1126616
SPP1
0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
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: 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: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.020 1.000 2 2011 2016
dbSNP: rs2166975
rs2166975
TGFA
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2007 2007
dbSNP: rs3741475
rs3741475
NOS1
1.000 0.040 12 117232109 synonymous variant G/A snv 0.22 0.22
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: 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: 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: 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: 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: rs756421370
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
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: 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: rs937726878
rs937726878
PMM2 ; TMEM186
0.882 0.240 16 8797949 splice donor variant G/T snv 1.4E-05 7.0E-06
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: 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: 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: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
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: 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