Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1014509103 | 1.000 | 0.080 | 1 | 161194005 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 2 | |
rs1053133 | 1.000 | 0.080 | 6 | 41932887 | 3 prime UTR variant | C/A;T | snv | 2 | |||
rs1065205 | 1.000 | 0.080 | 18 | 63655761 | missense variant | T/C;G | snv | 0.15 | 2 | ||
rs12427129 | 1.000 | 0.080 | 12 | 53973906 | missense variant | C/T | snv | 9.0E-02 | 7.0E-02 | 2 | |
rs17501292 | 1.000 | 0.080 | 7 | 27201854 | non coding transcript exon variant | T/C;G | snv | 2 | |||
rs308379 | 1.000 | 0.080 | 4 | 122861741 | intron variant | A/T | snv | 0.68 | 2 | ||
rs3816747 | 1.000 | 0.080 | 8 | 13499293 | missense variant | G/A | snv | 0.87 | 0.89 | 2 | |
rs39315 | 1.000 | 0.080 | 7 | 117323508 | intron variant | T/C;G | snv | 2 | |||
rs9200 | 1.000 | 0.080 | 5 | 41142504 | 3 prime UTR variant | C/A;T | snv | 2 | |||
rs10519613 | 1.000 | 0.080 | 4 | 141732931 | 3 prime UTR variant | C/A | snv | 0.10 | 3 | ||
rs1127717 | 0.925 | 0.160 | 3 | 126107216 | missense variant | T/C | snv | 0.18 | 0.20 | 3 | |
rs121913676 | 0.925 | 0.080 | 7 | 116783421 | missense variant | G/A;C;T | snv | 3 | |||
rs157077 | 1.000 | 0.080 | 10 | 104278136 | intron variant | T/C | snv | 0.45 | 0.53 | 3 | |
rs17006625 | 0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 | 3 | ||
rs80291436 | 1.000 | 0.080 | X | 7843706 | missense variant | T/A;C;G | snv | 4.9E-05; 0.19 | 3 | ||
rs886039463 | 1.000 | 0.080 | 12 | 112489096 | missense variant | C/A | snv | 3 | |||
rs12774070 | 0.925 | 0.120 | 10 | 70753879 | missense variant | C/A;G | snv | 0.23 | 0.19 | 4 | |
rs16405 | 0.882 | 0.120 | 10 | 101553963 | 3 prime UTR variant | AACAGTGGA/- | del | 0.31 | 4 | ||
rs3864004 | 0.882 | 0.200 | 3 | 41198686 | 5 prime UTR variant | G/A | snv | 0.40 | 4 | ||
rs1042489 | 0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 | 5 | ||
rs10491121 | 0.882 | 0.120 | 17 | 36102943 | upstream gene variant | G/A | snv | 0.32 | 5 | ||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
rs1288373809 | 0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 | 5 | ||
rs2239186 | 0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 | 5 | ||
rs779196500 | 0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 | 5 |