Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1019670
rs1019670
MS4A6A
1 11 60173126 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs10226084
rs10226084 		3 7 17957989 upstream gene variant T/C snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs1029738
rs1029738
LOC112267993
1 7 22834428 downstream gene variant C/A snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10479002
rs10479002
SLC22A4 ; MIR3936HG
1 5 132335969 synonymous variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs10489615
rs10489615
GALNT2
3 1 230169242 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10761756
rs10761756
JMJD1C
1 10 63412568 intron variant C/T snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs10864726
rs10864726
GALNT2
1 1 230160406 intron variant C/T snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs10950690
rs10950690
SNX13
1 7 17941687 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11136252
rs11136252
PARP10 ; SPATC1
1 8 144010325 intron variant T/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs11242111
rs11242111
IRF1-AS1 ; LINC02863
3 5 132420366 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs1154988
rs1154988 		7 3 136206349 upstream gene variant T/A snv 0.76 0.800 1.000 1 2013 2013
dbSNP: rs11630054
rs11630054
SPPL2A
1 15 50723495 intron variant T/G snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs11859517
rs11859517
CHD9
1 16 53147335 intron variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs11864453
rs11864453
DHODH
1 16 72016581 non coding transcript exon variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs12511469
rs12511469 		3 4 154530607 downstream gene variant T/A snv 0.18 0.800 1.000 1 2011 2011
dbSNP: rs12528797
rs12528797
TSBP1-AS1
1 6 32377309 intron variant A/G snv 1.0E-01 0.700 1.000 1 2017 2017
dbSNP: rs12598049
rs12598049
CHD9
1 16 53282942 intron variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs12651106
rs12651106
DCHS2
3 4 154379907 intron variant C/A snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs12699921
rs12699921 		1 7 17954871 intergenic variant G/A snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs12712127
rs12712127
IL1R1
3 2 102110201 intron variant A/G snv 0.62 0.800 1.000 1 2013 2013
dbSNP: rs12913259
rs12913259
SPPL2A
1 15 50722519 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs12915052
rs12915052
SPPL2A
1 15 50732090 intron variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs12915708
rs12915708
SPPL2A
3 15 50756405 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs13226190
rs13226190
GIMAP6
1 7 150629474 intron variant T/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs13234724
rs13234724
GIMAP6
1 7 150628087 missense variant C/G;T snv 0.22 0.18 0.700 1.000 1 2017 2017