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: rs11048456
rs11048456
LOC105369705
6 1.000 0.080 12 26310149 intron variant C/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs1128249
rs1128249
COBLL1
10 1.000 0.080 2 164672114 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12210538
rs12210538
SLC22A16
3 1.000 0.040 6 110438805 missense variant A/G snv 0.17 0.16 0.700 1.000 1 2016 2016
dbSNP: rs12568930
rs12568930 		4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs1264622
rs1264622
HLA-L ; HCG18 ; HCG17
3 1.000 0.120 6 30289159 non coding transcript exon variant C/T snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs13389219
rs13389219
COBLL1
9 1.000 0.080 2 164672366 intron variant C/T snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs17534202
rs17534202 		7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs2022065
rs2022065
TRIM10
2 1.000 0.120 6 30153683 3 prime UTR variant C/T snv 0.30 0.27 0.700 1.000 1 2016 2016
dbSNP: rs4434553
rs4434553
TFR2
5 1.000 0.040 7 100642568 intron variant A/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs649729
rs649729
EHD3
3 1.000 0.040 2 31241519 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6929796
rs6929796
NFKBIL1
2 1.000 0.120 6 31554892 intron variant G/A snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs702634
rs702634
ARL15
3 1.000 0.080 5 53975590 intron variant G/A snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs7085104
rs7085104
AS3MT ; BORCS7-ASMT
2 1.000 0.040 10 102869116 intron variant A/G snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs72664324
rs72664324
PLPP3
2 1.000 0.040 1 56506681 intron variant G/A snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs8887
rs8887
HDGFL2 ; PLIN4
7 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs9920
rs9920
CAV1
3 1.000 0.040 7 116560038 3 prime UTR variant T/C snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs116100695
rs116100695
PKLR
3 0.925 0.120 1 155291918 missense variant G/A snv 3.0E-03 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs12454712
rs12454712
BCL2
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs507778
rs507778 		3 0.925 0.200 6 32242084 intergenic variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs766432
rs766432
BCL11A
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs1671152
rs1671152
GP6 ; LOC107985325
5 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.700 1.000 1 2016 2016
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4766578
rs4766578
ATXN2
8 0.851 0.200 12 111466567 intron variant T/A snv 0.66 0.700 1.000 1 2016 2016