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: rs10997975
rs10997975
MYPN
1 10 68174164 missense variant G/A;C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs11431
rs11431
SAMD4A
1 14 54788955 3 prime UTR variant C/A;G;T snv 1.2E-05; 0.53 0.700 1.000 1 2018 2018
dbSNP: rs2237078
rs2237078
HBEGF
1 5 140337403 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2292462
rs2292462
NMB
2 1.000 0.080 15 84657523 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2693560
rs2693560 		1 6 117202508 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2819598
rs2819598 		1 6 117132241 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4665988
rs4665988
C2orf16
1 2 27538569 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs491626
rs491626
ABO
2 9 133269461 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs61871700
rs61871700
CPN1
3 10 100068504 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs7138813
rs7138813 		1 12 7580629 intergenic variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7208815
rs7208815 		1 17 40012462 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7487435
rs7487435 		1 12 7531072 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs76854597
rs76854597
ANO5
1 11 22200238 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs8101286
rs8101286
PEPD
1 19 33395807 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs147178973
rs147178973
CEP112 ; LOC105371867
1 17 65887477 intron variant T/C snv 2.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs78139700
rs78139700
BVES ; BVES-AS1
1 6 105135997 intron variant C/G;T snv 8.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs116924819
rs116924819 		1 10 124922340 intron variant T/A snv 6.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs137933779
rs137933779
IQGAP3
1 1 156529759 intron variant A/G snv 7.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs11559024
rs11559024
CKM
2 19 45317925 missense variant T/C snv 1.1E-02 1.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs147140551
rs147140551 		1 5 39659340 intergenic variant G/A snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs61751507
rs61751507
CPN1
3 1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs1801690
rs1801690
APOH
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs117692263
rs117692263
CD163 ; CD163L1
1 12 7472418 intron variant T/C snv 7.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11670986
rs11670986 		1 19 54270639 downstream gene variant A/G snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs333947
rs333947
CSF1
7 1 109928142 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018