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: rs9990333
rs9990333 		4 3 196100334 intergenic variant C/T snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 2 2014 2017
dbSNP: rs8177240
rs8177240
TF
5 3 133758857 intron variant T/C;G snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 1 2014 2014
dbSNP: rs73373322
rs73373322
SEPTIN9
2 17 77385957 intron variant C/T snv 3.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs73214671
rs73214671
SORCS2
1 4 7570384 intron variant G/A snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs6762719
rs6762719
TF
4 3 133761973 non coding transcript exon variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs57620710
rs57620710
LINC02331 ; LOC105370504
1 14 53694373 intron variant GGAGGT/- delins 0.78 0.700 1.000 1 2017 2017
dbSNP: rs4642515
rs4642515
HLA-DQB1
1 6 32664039 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs3797579
rs3797579
POLK
1 5 75574232 intron variant A/G snv 9.9E-04 0.700 1.000 1 2017 2017
dbSNP: rs35237909
rs35237909
PRSS16
1 6 27256188 3 prime UTR variant ATCT/- delins 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs3013795
rs3013795
ANTXRL
1 10 46313639 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2442120
rs2442120
DTWD2
2 5 118970884 intron variant A/C snv 0.98 0.700 1.000 1 2017 2017
dbSNP: rs202056061
rs202056061
CARMIL1
2 6 25494109 intron variant AGTT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs184908836
rs184908836
LINC02008
1 3 82041833 intron variant A/G snv 3.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs181143083
rs181143083
ZDHHC14
2 6 157434218 intron variant T/A snv 7.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
dbSNP: rs1799852
rs1799852
TF
5 3 133756878 synonymous variant C/T snv 0.13 0.11 0.700 1.000 1 2014 2014
dbSNP: rs17052130
rs17052130
SPRY3
1 X 155675419 intergenic variant T/C snv 4.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs150548770
rs150548770
ESM1 ; LOC102467081
2 5 55020802 intron variant T/C snv 5.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs147477420
rs147477420 		1 11 33988237 TF binding site variant G/A snv 3.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs144453006
rs144453006
SLC3A2
1 11 62887212 intron variant G/A snv 3.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs143130997
rs143130997
FIG4
2 6 109780207 intron variant G/A snv 5.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs141555380
rs141555380
GAB3
1 X 154677735 3 prime UTR variant C/T snv 4.2E-02 0.700 1.000 1 2017 2017