Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28601761 1.000 0.040 8 125487789 intron variant C/G snv 0.37 13
rs715
CPS1
1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 13
rs12509595 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 10
rs10224210
PRKAG2
1.000 0.040 7 151716108 intron variant T/C snv 0.21 9
rs10857147 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 9
rs62435145 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 8
rs3925584
LOC101928338
1.000 0.080 11 30738788 intergenic variant T/C snv 0.35 7
rs77924615
PDILT
1.000 0.080 16 20381010 intron variant G/A snv 0.16 7
rs13146355
SHROOM3
1.000 0.040 4 76490987 intron variant G/A snv 0.33 6
rs7740107
L3MBTL3
1.000 0.080 6 130053316 intron variant T/A;G snv 6
rs10109414 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 5
rs12922822
UMOD
1.000 0.040 16 20356323 upstream gene variant C/A;T snv 5
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 5
rs2823139 1.000 0.080 21 15204463 intron variant G/A snv 0.34 5
rs626277
DACH1
1.000 0.080 13 71773564 intron variant A/C snv 0.51 5
rs6420094
SLC34A1
1.000 0.080 5 177390635 intron variant A/G snv 0.29 5
rs7422339
CPS1
1.000 0.080 2 210675783 missense variant C/A snv 5
rs7805747
PRKAG2
1.000 0.080 7 151710715 intron variant G/A snv 0.26 5
rs10774021
SLC6A13
1.000 0.080 12 240132 intron variant C/T snv 0.57 4
rs10794720
WDR37
1.000 0.080 10 1110225 intron variant T/C snv 0.89 4
rs11554266
GNAS
1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 4
rs11959928
DAB2 ; C9
1.000 0.080 5 39397030 intron variant T/A snv 0.39 4
rs12460876
SLC7A9
1.000 0.080 19 32865985 intron variant T/C snv 0.36 4
rs1264347
LINC00243
1.000 0.040 6 30830920 upstream gene variant C/T snv 7.9E-02 4
rs138551969
VEGFA
1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05 4