Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs104893689
CASR
0.790 0.200 3 122261589 missense variant G/A;C snv 10
rs1057518933
CASR
0.851 0.160 3 122284403 missense variant G/A snv 5
rs121909262
CASR
0.851 0.120 3 122254304 missense variant C/G;T snv 5
rs121909264
CASR
0.851 0.160 3 122257323 missense variant G/A snv 5
rs193922442
CASR
0.827 0.120 3 122261589 frameshift variant G/- del 5
rs28936684
CASR
0.827 0.160 3 122261715 missense variant G/A;T snv 4.0E-06 5
rs767363250
CASR
0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 5
rs137853092
WNK4
0.851 0.240 17 42787494 missense variant C/G snv 5
rs1482119762
CASR
0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06 4
rs397514728
CASR
0.851 0.160 3 122261697 missense variant C/A;T snv 4
rs137853095
WNK4 ; COA3
0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04 4
rs104893705
CASR
0.882 0.120 3 122283896 stop gained C/A;G;T snv 4.0E-06 3
rs104893717
CASR
0.925 0.040 3 122254227 missense variant T/C snv 3
rs1057520791
CASR
0.882 0.160 3 122284611 missense variant G/A;C snv 3
rs1060502855
CASR
0.882 0.160 3 122261567 missense variant A/G snv 3
rs121909258
CASR
0.882 0.160 3 122284337 missense variant C/T snv 7.0E-06 3
rs121909259
CASR
0.882 0.160 3 122261924 missense variant G/A snv 3
rs200673016
CASR
0.925 0.040 3 122254221 missense variant T/C snv 4.2E-05 3