Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 6
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs1553265736
LMNA
0.925 0.040 1 156136080 missense variant G/C snv 4
rs397516089
MYH7
0.827 0.080 14 23429807 missense variant C/G;T snv 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs56793579
LMNA
0.851 0.240 1 156115102 missense variant C/G;T snv 3
rs61195471
LMNA
0.827 0.160 1 156134496 missense variant G/A snv 3
rs794728602
LMNA
1.000 0.040 1 156115168 missense variant G/A snv 3
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 3
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 2
rs37369
AGXT2
0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 1
rs991104525
ARSB
0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 1
rs398122917
CLIC2
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 1
rs1799998
CYP11B2
0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 1