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: rs17563683
rs17563683
LINC02210-CRHR1 ; LOC107985028
3 17 45733706 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs17773190
rs17773190
LINC01118
3 2 46803224 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs17799476
rs17799476
PRKCE
2 2 46125187 intron variant C/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs184088518
rs184088518
EGLN2 ; RAB4B-EGLN2
2 19 40799233 5 prime UTR variant G/T snv 1.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs184562466
rs184562466
PMS2P1
1 7 100325440 intron variant C/T snv 5.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs1848347
rs1848347 		1 4 54520711 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1936807
rs1936807
RSPO3
4 6 127127104 intron variant C/G snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs198833
rs198833 		5 6 26114280 downstream gene variant G/A snv 0.87 0.700 1.000 1 2009 2009
dbSNP: rs198851
rs198851
H4C3
15 6 26104404 downstream gene variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1997595
rs1997595 		3 21 15205839 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2000999
rs2000999
HPR ; TXNL4B
7 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs2032451
rs2032451
HFE ; LOC108783645
2 6 26091942 intron variant G/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs2037978
rs2037978
LOC101927745
2 21 15413369 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs218264
rs218264 		5 4 54542708 intergenic variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2230657
rs2230657
NASP
1 1 45607817 synonymous variant G/A snv 0.52 0.55 0.700 1.000 1 2016 2016
dbSNP: rs2236496
rs2236496
RCL1
5 9 4844265 intron variant T/C snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs2241388
rs2241388
ZC3H4
2 19 47069730 intron variant T/C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs2246363
rs2246363
TEX41 ; LOC100505498
1 2 145025715 intron variant G/A snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs2269188
rs2269188
SIM2 ; LOC105369308 ; LOC107985492
3 21 36700056 intron variant G/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs2279434
rs2279434
MARCHF8
4 10 45459616 intron variant C/T snv 7.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs228129
rs228129
LOC112268295
6 22 37032558 upstream gene variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs228907
rs228907
TMPRSS6
2 22 37101553 intron variant G/A snv 0.33 0.700 1.000 1 2009 2009
dbSNP: rs228918
rs228918
TMPRSS6
3 22 37110640 upstream gene variant T/C snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs228919
rs228919
TMPRSS6
3 22 37110673 upstream gene variant G/T snv 0.40 0.700 1.000 1 2009 2009