Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 21
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 17
rs142433332
DARS2
0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs1557551678
CLDN19
0.882 0.160 1 42738421 missense variant C/A snv 9
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 9
rs281874674
COL4A5
0.827 0.280 X 108597479 missense variant G/C;T snv 8
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8
rs1293789661
CLCN2
0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06 7
rs118204456
GRK6 ; F12 ; SLC34A1
0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 7
rs569681869
COL4A4
0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 6
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins 6
rs137852704
SCNN1B
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06 6