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: rs1057519583
rs1057519583
STN1
0.882 0.160 10 103900115 missense variant C/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2019 2019
dbSNP: rs10774909
rs10774909
NOS1
1.000 0.040 12 117236324 intron variant C/G snv 0.28
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
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: 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: 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: rs1411040
rs1411040
COL4A1
1.000 0.040 13 110291574 intron variant C/T snv 0.84
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
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: rs16944
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2019 2019
dbSNP: rs1799724
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02
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
dbSNP: rs1800871
rs1800871
IL10 ; IL19
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
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: rs191727850
rs191727850
MIR124-2 ; MIR124-2HG
1.000 0.040 8 64379319 intron variant A/G snv 1.0E-04
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
dbSNP: rs1961495
rs1961495
COL4A1
1.000 0.040 13 110229026 intron variant C/T snv 0.14
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
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: rs2066992
rs2066992
IL6 ; IL6-AS1
0.807 0.200 7 22728630 non coding transcript exon variant G/T snv 9.4E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
0.724 0.520 7 22728408 intron variant A/C;G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
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: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
dbSNP: rs2735835
rs2735835
CCL18
1.000 0.040 17 36065936 intron variant G/A snv 0.60
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2015 2015
dbSNP: rs2853744
rs2853744
SPP1
0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016