Source: GWASDB

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: rs28493229
rs28493229
COQ8B ; ITPKC
0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.890 0.900 1 2010 2018
dbSNP: rs1801274
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.880 1.000 1 2011 2019
dbSNP: rs2736340
rs2736340 		0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.820 1.000 2 2012 2016
dbSNP: rs2254546
rs2254546 		0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.820 1.000 1 2012 2014
dbSNP: rs2857151
rs2857151 		0.925 0.160 6 32795737 intergenic variant A/C;G snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.810 1.000 1 2012 2013
dbSNP: rs4813003
rs4813003 		0.882 0.160 20 46134645 downstream gene variant C/A;T snv 0.19
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.810 1.000 1 2012 2015
dbSNP: rs527409
rs527409
DAB1
1.000 0.120 1 58292243 intron variant T/C snv 0.95
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.810 1.000 1 2011 2011
dbSNP: rs1569723
rs1569723 		0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2012 2012
dbSNP: rs17136627
rs17136627
KCNN2 ; LOC101927078
0.925 0.120 5 114463289 intron variant C/T snv 7.5E-02
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2013 2013
dbSNP: rs17531088
rs17531088
NAALADL2
1.000 0.120 3 175175985 intron variant C/T snv 0.34
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2009 2009
dbSNP: rs17667932
rs17667932
MED30
1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2012 2012
dbSNP: rs2130392
rs2130392
CENPU
1.000 0.120 4 184718015 intron variant G/A;C;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2012 2012
dbSNP: rs2233152
rs2233152
MIA ; MIA-RAB4B
1.000 0.120 19 40775111 intron variant G/A;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2012 2012
dbSNP: rs7656244
rs7656244
TECRL
1.000 0.120 4 64304697 intron variant C/A snv 0.21
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2012 2012
dbSNP: rs6993775
rs6993775
BLK
1.000 0.120 8 11512480 intron variant G/T snv 0.77
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.720 1.000 1 2012 2019
dbSNP: rs10082659
rs10082659
LDLRAD3
1.000 0.120 11 36122428 intron variant G/T snv 0.42
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs10100215
rs10100215
BLK
1.000 0.120 8 11504763 intron variant G/T snv 0.26
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs11250141
rs11250141
BLK
1.000 0.120 8 11514632 intron variant G/A snv 0.48
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs11734
rs11734
ZSCAN25
1.000 0.120 7 99632145 3 prime UTR variant G/A;C snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs11990277
rs11990277
BLK
1.000 0.120 8 11514576 intron variant T/C snv 0.23
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs13256690
rs13256690 		1.000 0.120 8 11481059 non coding transcript exon variant G/A;C;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs13277113
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1382568
rs1382568
BLK
0.925 0.160 8 11493711 intron variant A/C;G snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1478887
rs1478887
BLK
1.000 0.120 8 11498471 intron variant C/T snv 0.64
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1478895
rs1478895
BLK
1.000 0.120 8 11495826 intron variant G/C snv 0.83
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.700 1.000 1 2012 2012