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: rs678741
rs678741
LBX1-AS1
4 0.851 0.200 10 101237824 intron variant G/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs1322331
rs1322331
LBX1
2 0.925 0.200 10 101226832 3 prime UTR variant A/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1322332
rs1322332 		1 1.000 0.040 10 101222891 downstream gene variant T/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs11598177
rs11598177 		1 1.000 0.040 10 101220399 regulatory region variant T/C snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs1568097
rs1568097
CHL1-AS2
1 1.000 0.040 3 138468 intron variant T/C snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1400180
rs1400180
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 129285 intron variant T/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs9819101
rs9819101
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 124824 intron variant G/A;C snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs4684051
rs4684051
CHL1-AS2
1 1.000 0.040 3 136842 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1588962
rs1588962
CHL1-AS2
1 1.000 0.040 3 142352 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1878169
rs1878169
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 123429 intron variant A/T snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs965084
rs965084
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 125415 intron variant G/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs7639674
rs7639674
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 130837 non coding transcript exon variant A/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs12432472
rs12432472
LINC02294 ; LINC02293
1 1.000 0.040 14 26807959 intron variant A/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs12432469
rs12432469
LINC02294 ; LINC02293
1 1.000 0.040 14 26807946 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs1407409
rs1407409 		1 1.000 0.040 10 101225650 upstream gene variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs1322330
rs1322330
LBX1-AS1
1 1.000 0.040 10 101231902 intron variant A/G snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs2281894
rs2281894
CELSR2
1 1.000 0.040 1 109267922 synonymous variant C/A snv 0.22 0.17 0.010 1.000 1 2017 2017
dbSNP: rs76319884
rs76319884 		1 1.000 0.040 10 101216249 intergenic variant C/G snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs7914775
rs7914775 		1 1.000 0.040 10 101216904 intergenic variant C/T snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 1996 1996
dbSNP: rs200590764
rs200590764 		1 1.000 0.040 10 101216904 intergenic variant -/T delins 6.6E-03 0.700 1.000 1 2011 2011
dbSNP: rs557849165
rs557849165
MYH3
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
dbSNP: rs140119177
rs140119177
FAM120AOS
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0