Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1425998598
rs1425998598
BPTF
19 0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1057518836
rs1057518836
NDP ; NDP-AS1
4 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs1557551678
rs1557551678
CLDN19
9 0.882 0.160 1 42738421 missense variant C/A snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs202057289
rs202057289
LRP2
2 0.925 0.160 2 169129060 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs727503054
rs727503054
FBN1
15 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
dbSNP: rs730882261
rs730882261
RPGR
3 0.882 0.080 X 38286572 frameshift variant CT/- delins 0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs3759223
rs3759223
LUM
2 0.925 0.040 12 91113006 upstream gene variant A/G snv 2.7E-02 0.060 0.833 6 2006 2014
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.050 1.000 5 2011 2019
dbSNP: rs2075555
rs2075555
COL1A1
6 0.807 0.240 17 50196930 intron variant T/A;G snv 0.040 0.500 4 2007 2011
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.040 0.500 4 2011 2017
dbSNP: rs2269336
rs2269336
COL1A1
1 1.000 0.040 17 50202995 intron variant G/A;C snv 0.030 0.667 3 2007 2011
dbSNP: rs339501
rs339501
FGF10
2 0.925 0.040 5 44365531 intron variant C/T snv 0.94 0.030 1.000 3 2013 2019
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.030 1.000 3 2011 2019
dbSNP: rs13382811
rs13382811
ZEB2
4 0.882 0.040 2 144466053 intron variant C/T snv 0.21 0.020 1.000 2 2017 2019
dbSNP: rs1516794
rs1516794
ACAN
1 1.000 0.040 15 88861672 intron variant A/T snv 5.3E-03 0.020 1.000 2 2011 2014