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: rs9024
rs9024
CBR1 ; SETD4 ; LOC100133286
0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs9640699
rs9640699
MAGI2
0.925 0.120 7 78366115 intron variant A/C snv 0.58
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs9878047
rs9878047
CRELD1
0.851 0.160 3 9943773 intron variant T/C snv 0.38
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 0.882 34 1999 2019
dbSNP: rs1465444723
rs1465444723
TCN2
0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 < 0.001 1 2008 2008
dbSNP: rs762403278
rs762403278
MTHFR
0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1323833193
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs587781858
rs587781858
TP53
0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs749628781
rs749628781
CRELD1
0.882 0.160 3 9934538 missense variant C/T snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 1.000 4 2005 2013
dbSNP: rs461155
rs461155
ETS2
0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs1445106099
rs1445106099
SLC19A1
0.925 0.120 21 45531596 missense variant C/T snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs142569954
rs142569954
EDNRB
0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.070 0.857 7 2008 2013
dbSNP: rs1237063529
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 1.000 4 2005 2013
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs755981922
rs755981922
CRELD1
0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs779011920
rs779011920
CBS
0.882 0.160 21 43066299 missense variant C/T snv 8.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 1.000 5 2005 2017
dbSNP: rs121913615
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs1215380342
rs1215380342
SLC19A1
0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs771748290
rs771748290
CBS
0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 1.000 5 2005 2017
dbSNP: rs775144154
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 1.000 2 2005 2007
dbSNP: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 0.667 3 2006 2013