Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 34
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs1557551678
CLDN19
0.882 0.160 1 42738421 missense variant C/A snv 9
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 9
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs765919785
COL18A1 ; MIR6815
0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 4
rs1057518836
NDP ; NDP-AS1
0.882 0.120 X 43949887 missense variant G/A snv 4
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs730882261
RPGR
0.882 0.080 X 38286572 frameshift variant CT/- delins 3
rs79204362
CYP1B1
0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 2
rs202057289
LRP2
0.925 0.160 2 169129060 stop gained G/A snv 1.2E-05 2.8E-05 2
rs1107946
COL1A1
1.000 0.040 17 50203629 intron variant A/C snv 0.80 1
rs200857997
PRIMPOL
0.925 0.040 4 184659424 missense variant T/C;G snv 1.2E-05; 4.4E-04 1
rs28933687
RP2
0.882 0.080 X 46853726 missense variant G/A;T snv 1
rs199624584
SLC39A5
0.925 0.040 12 56231415 stop gained C/A;G;T snv 2.4E-05; 4.0E-06; 1.6E-05; 2.4E-05 1
rs587777069
SLITRK6
0.882 0.160 13 85795269 stop gained G/A;T snv 1.2E-05; 4.0E-06 1
rs387907109
ZNF644
0.925 0.040 1 90939340 missense variant T/C snv 4.0E-06 1