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: rs10518693
rs10518693
IVD
2 15 40407823 intron variant C/T snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs10799701
rs10799701 		2 1 21494497 intergenic variant A/G snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs10965246
rs10965246 		2 9 22132699 downstream gene variant T/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1203936
rs1203936 		2 20 22611792 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12053049
rs12053049
SPC25
2 2 168910638 intron variant T/C snv 5.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12670403
rs12670403
AHR ; LOC101927609
2 7 17269655 intron variant C/A snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs12712928
rs12712928 		2 2 44964941 intron variant G/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13391552
rs13391552
ALMS1
2 2 73591809 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1349497
rs1349497
RAPGEF4-AS1
2 2 172727935 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1447352
rs1447352 		2 11 92989595 downstream gene variant G/A snv 0.55 0.800 1.000 1 2009 2009
dbSNP: rs2023634
rs2023634
DGCR9 ; DGCR5
2 22 18984937 intron variant A/G snv 7.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs2087160
rs2087160
ENPEP
2 4 110413574 intron variant G/T snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs2216405
rs2216405 		2 2 210752170 intergenic variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs2403254
rs2403254
HPS5
2 11 18303599 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2411884
rs2411884
KCNQ1
2 11 2714304 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2518049
rs2518049
AKR1C3
2 10 5095844 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2652822
rs2652822
RPS27L ; LACTB
2 15 63130573 3 prime UTR variant T/C snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs272889
rs272889
SLC22A4 ; MIR3936HG
2 5 132329685 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs4329
rs4329
ACE
2 17 63486097 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs4581570
rs4581570 		2 13 27936575 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs494562
rs494562 		2 6 85407411 intergenic variant A/G snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs503279
rs503279
FUT2 ; LOC105447645
2 19 48705753 3 prime UTR variant T/C snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs57884925
rs57884925
GLIS3
2 9 4285119 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6499165
rs6499165
SLC7A6 ; SLC7A6OS
2 16 68292297 non coding transcript exon variant A/C snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs6558295
rs6558295
GPAA1
2 8 144084619 intron variant C/G snv 8.1E-02 0.14 0.700 1.000 1 2011 2011