Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3834458
FADS1 ; FADS2
0.807 0.200 11 61827449 intron variant T/- del 0.28 7
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 10
rs5854292
EGFEM1P
0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 5
rs112329286
SYNE2
1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24 4
rs1057518797
PKD2
4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 3
rs11320420
MYRF ; TMEM258
1.000 0.080 11 61774535 intron variant AAAAA/-;AAA;AAAA;AAAAAA delins 0.30 2
rs142864856 1.000 0.080 2 151100757 intergenic variant CA/-;CACA;CACACA;CACACACA delins 2
rs201631095
CERS4
1.000 0.080 19 8208084 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA delins 2
rs35473591
FADS2 ; FADS1
1.000 0.080 11 61818856 intron variant -/T delins 0.28 2
rs57668028
FADS1 ; FADS2
1.000 0.080 11 61824524 intron variant AA/-;AAA;AAAA delins 7.5E-03 2
rs5792235
FADS2 ; FADS1
1.000 0.080 11 61828851 intron variant A/- delins 0.30 2
rs571461077
DOK6
18 69609487 intron variant ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA delins 1
rs58206678
DOK6
18 69609487 intron variant ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA delins 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131