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: rs116112266
rs116112266
LINC01885
1 2 107482651 intron variant G/C snv 3.5E-03 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: rs184908836
rs184908836
LINC02008
1 3 82041833 intron variant A/G snv 3.8E-03 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: rs8177240
rs8177240
TF
5 3 133758857 intron variant T/C;G snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs9990333
rs9990333 		4 3 196100334 intergenic variant C/T snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs73214671
rs73214671
SORCS2
1 4 7570384 intron variant G/A snv 1.5E-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: rs2442120
rs2442120
DTWD2
2 5 118970884 intron variant A/C snv 0.98 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: rs111722075
rs111722075
CMAHP ; CARMIL1
2 6 25373818 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs113507773
rs113507773
LOC105374986
2 6 26255511 upstream gene variant G/A snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs116009877
rs116009877 		4 6 25715429 regulatory region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13191659
rs13191659
LINC00240
4 6 27033276 intron variant C/G;T snv 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: 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: 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: rs181143083
rs181143083
ZDHHC14
2 6 157434218 intron variant T/A snv 7.5E-04 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: rs35237909
rs35237909
PRSS16
1 6 27256188 3 prime UTR variant ATCT/- delins 4.2E-02 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: rs111991936
rs111991936 		1 7 23289983 regulatory region variant G/A snv 1.1E-02 0.700 1.000 1 2017 2017
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: rs10097946
rs10097946
KCNU1 ; LOC105379375
1 8 36920273 intron variant C/A snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs10101752
rs10101752 		1 8 37125160 intergenic variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017