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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2000 2000
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: rs2071421
rs2071421
ARSA
0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs5349
rs5349
EDNRB ; EDNRB-AS1
0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2005 2005
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: rs121912594
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2007 2007
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: rs2187247
rs2187247
ERVH48-1
1.000 0.080 21 42919268 non coding transcript exon variant T/G snv 0.59
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2008 2008
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: rs363430
rs363430
BACH1 ; GRIK1 ; GRIK1-AS2
0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs363504
rs363504
BACH1 ; GRIK1
0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs363538
rs363538
GRIK1
0.882 0.160 21 29689750 synonymous variant T/A;G snv 0.20
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs10763976
rs10763976
PARD3
0.925 0.120 10 34275364 intron variant G/A snv 0.42
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs1331959399
rs1331959399
TWIST1
0.925 0.120 7 19117256 synonymous variant T/C snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
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: rs1457092
rs1457092
MYO9B
0.790 0.320 19 17193427 intron variant C/A snv 0.44
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs1496770
rs1496770
MAGI2
0.925 0.120 7 78629694 intron variant C/T snv 0.43
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs2305764
rs2305764
MYO9B
0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs6962966
rs6962966
MAGI2
0.925 0.120 7 78174806 intron variant A/G snv 0.50
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
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: rs2073416
rs2073416
SIM2
0.925 0.120 21 36744739 synonymous variant G/A;T snv 0.22
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2011 2011