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: rs1064583
rs1064583
COL10A1 ; NT5DC1
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs11184959
rs11184959 		1 1.000 0.040 1 106671354 intergenic variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs1120638
rs1120638 		1 1.000 0.040 Y 3649707 intergenic variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs115333865
rs115333865
CGRRF1
1 1.000 0.040 14 54537731 missense variant G/A snv 1.9E-02 2.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs11671784
rs11671784
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
9 0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs13079080
rs13079080
SUCNR1 ; AADACL2-AS1
1 1.000 0.040 3 151881605 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs140250387
rs140250387
DLGAP1
1 1.000 0.040 18 3534426 synonymous variant A/G snv 8.4E-04 9.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs145146260
rs145146260
DISC1FP1
1 1.000 0.040 11 90461541 intron variant T/- delins 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs151214675
rs151214675
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63661882 missense variant G/A snv 1.6E-04 1.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs1536304
rs1536304
LINC02537 ; LOC107986598
1 1.000 0.040 6 43850100 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1800630
rs1800630
LTA ; TNF ; LOC100287329
17 0.701 0.480 6 31574699 upstream gene variant C/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1927907
rs1927907
TLR4
7 0.790 0.320 9 117710486 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs200437673
rs200437673
LCN9
1 1.000 0.040 9 135663391 missense variant A/G snv 3.0E-03 3.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs2588809
rs2588809
RAD51B
6 0.807 0.160 14 68193711 intron variant T/C snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs2839127
rs2839127
FTCD
1 1.000 0.040 21 46153636 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2019 2019
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs4351376
rs4351376 		1 1.000 0.040 7 51520352 intron variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs4351379
rs4351379 		1 1.000 0.040 7 54239886 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs56209061
rs56209061
KCTD10
1 1.000 0.040 12 109467880 intron variant G/A snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
8 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs833068
rs833068
VEGFA
4 0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs868349465
rs868349465
EYS
4 0.851 0.080 6 64388718 missense variant C/A;T snv 2.7E-05; 1.4E-05; 6.9E-06 2.1E-05 0.010 1.000 1 2019 2019