Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 230
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 201
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 153
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 131
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 68
rs4762
AGT
0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 35
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 29
rs225014
DIO2
0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 21
rs8193036
IL17A
0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 21
rs12212067
FOXO3
0.716 0.320 6 108659993 intron variant T/G snv 0.14 20
rs267607161
TTR
0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 16
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 10
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv 10
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv 10
rs11541796
TTR
0.807 0.280 18 31593011 missense variant A/G snv 9
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 9
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 8
rs1799821
CPT2
0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 8
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 8
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 8