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: rs7993238
rs7993238 		1 13 21899454 intergenic variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs9515201
rs9515201
COL4A2
3 0.925 0.080 13 110388451 intron variant A/C snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs780159
rs780159
ZMIZ1
2 10 79147390 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs11672110
rs11672110
FOXA3
1 19 45870256 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12186798
rs12186798
YTHDC2
1 5 113552299 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs17167945
rs17167945
DGKB
1 7 14176817 3 prime UTR variant A/C;G snv 0.15 0.24 0.700 1.000 1 2018 2018
dbSNP: rs2033529
rs2033529
TDRG1
4 6 40380914 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4976265
rs4976265
C5orf66
1 5 135068464 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs76335902
rs76335902
LAMB1
1 7 107969061 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs765684
rs765684
LOC105374811
1 2 75232542 intergenic variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2268382
rs2268382
CPA1
1 7 130387196 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4715208
rs4715208 		1 6 50861758 upstream gene variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1443512
rs1443512 		4 12 53948900 downstream gene variant A/C;T snv 0.800 1.000 3 2010 2018
dbSNP: rs13256367
rs13256367
POU5F1B ; CASC8 ; PCAT1 ; CASC21
1 8 127322655 intron variant A/C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs4902632
rs4902632
RAD51B
1 14 68682711 intron variant A/C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1481801
rs1481801 		1 8 71077484 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs313741
rs313741
COL24A1
1 1 85807768 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs55962025
rs55962025
HTT
1 4 3110382 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1569135
rs1569135
LOC105373786
3 2 187250671 intron variant A/G snv 0.51 0.700 1.000 3 2015 2019
dbSNP: rs2294239
rs2294239
ZNRF3
4 22 29053489 intron variant A/G snv 0.36 0.700 1.000 3 2018 2019
dbSNP: rs2398893
rs2398893 		1 9 93996060 intergenic variant A/G snv 0.31 0.700 1.000 3 2015 2019
dbSNP: rs3786897
rs3786897
PEPD
5 1.000 0.080 19 33402102 intron variant A/G snv 0.45 0.700 1.000 3 2015 2019
dbSNP: rs459193
rs459193
C5orf67
9 0.925 0.120 5 56510924 downstream gene variant A/G snv 0.69 0.700 1.000 3 2015 2019
dbSNP: rs10477191
rs10477191
FGF1
1 5 142698150 upstream gene variant A/G snv 0.22 0.700 1.000 2 2019 2019
dbSNP: rs10795055
rs10795055
LOC105376360
1 10 3539029 intron variant A/G snv 0.54 0.700 1.000 2 2019 2019