Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 19
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 5
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv 5
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv 5
rs63751223
PSEN1
0.807 0.160 14 73219161 missense variant G/C snv 5
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs63749824
PSEN1
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 4
rs63750082
PSEN1
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 4
rs63750083
PSEN1
0.732 0.160 14 73219177 missense variant C/A;T snv 4
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv 4
rs63750590
PSEN1
0.790 0.120 14 73186860 missense variant A/G snv 4
rs63750900
PSEN1
0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 4
rs63751287
PSEN1
0.742 0.120 14 73192792 missense variant A/G;T snv 4
rs661
PSEN1
0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06 4
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 4
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 3
rs104894002
LOC105375056 ; TREM2
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3