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: 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 2017 2018
dbSNP: rs10711289
rs10711289
MECOM ; MECOM-AS1
1 3 169450583 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11039436
rs11039436 		2 11 47866484 intergenic variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12520522
rs12520522 		1 5 40494576 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1256061
rs1256061
ESR2
5 14 64236875 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs145611121
rs145611121
PRDM16
1 1 3402268 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs149804345
rs149804345 		3 3 56710234 intergenic variant AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs1728918
rs1728918 		19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17636351
rs17636351 		1 12 59216246 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1997595
rs1997595 		3 21 15205839 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2037978
rs2037978
LOC101927745
2 21 15413369 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs218264
rs218264 		5 4 54542708 intergenic variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2337106
rs2337106
SMAD7
4 18 48934533 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs34858804
rs34858804
MITF
2 3 69756466 intron variant TT/-;T;TTT;TTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs35750745
rs35750745
PRKAR1B
2 7 631957 intron variant AAA/-;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs35812910
rs35812910
MNS1 ; TEX9
2 15 56439447 intron variant AAAAAA/-;AAAA;AAAAA;AAAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs366684
rs366684
PROX1
3 1 214013919 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs369552432
rs369552432
VLDLR ; VLDLR-AS1
2 9 2622147 5 prime UTR variant GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC delins 0.700 1.000 1 2016 2016
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4704221
rs4704221
CERT1
16 0.851 0.120 5 75463358 intron variant T/A;C snv 0.700 1.000 1 2016 2016