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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.879 33 1999 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.857 21 2003 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.889 18 2000 2017
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.818 11 2003 2014
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.070 1.000 7 2007 2017
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.070 0.857 7 2008 2013
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 0.750 4 2006 2013
dbSNP: rs771748290
rs771748290
CBS
0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 1.000 4 2010 2017
dbSNP: rs779011920
rs779011920
CBS
0.882 0.160 21 43066299 missense variant C/T snv 8.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 1.000 4 2010 2017
dbSNP: rs1237063529
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 1.000 3 2005 2013
dbSNP: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 0.667 3 2006 2013
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 1.000 3 2005 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 1.000 2 2013 2017
dbSNP: rs1801198
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 0.500 2 2008 2012
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 1.000 2 2012 2014
dbSNP: rs2424913
rs2424913
DNMT3B
0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 1.000 2 2015 2018
dbSNP: rs104893904
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs10763976
rs10763976
PARD3
0.925 0.120 10 34275364 intron variant G/A snv 0.42
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs11254
rs11254
ETS2
0.925 0.120 21 38824464 3 prime UTR variant C/T snv 0.34
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2013 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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs1215380342
rs1215380342
SLC19A1
0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs121912594
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs12325817
rs12325817
PEMT
0.807 0.320 17 17583205 intron variant C/A;G;T snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2017 2017