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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 3 2012 2019
dbSNP: rs3847803
rs3847803
PLXNC1
1 1.000 0.040 12 94164800 intron variant C/T snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs7024345
rs7024345
PTCSC2
2 0.925 0.080 9 97832956 intron variant A/G snv 0.82 0.700 1.000 1 2012 2012
dbSNP: rs7582694
rs7582694
STAT4
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs1810396
rs1810396
TG
1 1.000 0.040 8 132906524 intron variant A/G snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs3135006
rs3135006 		2 0.925 0.160 6 32699342 intergenic variant T/C snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs3129720
rs3129720 		4 0.851 0.280 6 32695854 intergenic variant T/C snv 0.76 0.800 1.000 1 2012 2012
dbSNP: rs3134975
rs3134975 		2 0.925 0.160 6 32684804 regulatory region variant T/C snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs7583027
rs7583027 		1 1.000 0.040 2 62317256 intergenic variant A/C snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs8054578
rs8054578
MAF
1 1.000 0.040 16 79282918 intergenic variant A/G snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.710 1.000 3 2011 2014
dbSNP: rs244672
rs244672
LOC101060024 ; LOC105379185
1 1.000 0.040 5 134083592 upstream gene variant C/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.820 1.000 4 2011 2019
dbSNP: rs10759927
rs10759927
PTCSC2
1 1.000 0.040 9 97779894 intron variant A/G snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs4804433
rs4804433
INSR
1 1.000 0.040 19 7240765 intron variant G/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2011 2012
dbSNP: rs4824117
rs4824117
SBF1
1 1.000 0.040 22 50456704 intron variant A/G snv 0.64 0.71 0.700 1.000 1 2019 2019
dbSNP: rs11783023
rs11783023
AGO2
1 1.000 0.040 8 140629163 intron variant C/T snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs11066320
rs11066320
PTPN11
5 0.925 0.120 12 112468611 intron variant A/G snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs7866436
rs7866436 		2 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs2473808
rs2473808
AKR7A2 ; SLC66A1
1 1.000 0.040 1 19312389 5 prime UTR variant T/C snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs661713
rs661713
BACH2
1 1.000 0.040 6 90266280 intron variant G/A snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs10984103
rs10984103 		2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs11666808
rs11666808
IQCN
3 1.000 0.040 19 18272696 intron variant T/C snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2018 2018