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: 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: 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: 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: 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: 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: rs1400182
rs1400182
CHL1-AS2 ; LOC107986057
1 1.000 0.040 3 128928 intron variant C/G;T snv 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: 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: rs2393069
rs2393069
ZWINT
1 1.000 0.040 10 56359144 intron variant C/G;T snv 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: rs594791
rs594791
LBX1-AS1
1 1.000 0.040 10 101236039 intron variant T/C;G snv 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: 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: 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: 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: rs1567558314
rs1567558314
MYH3
7 0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 0.700 0
dbSNP: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
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: 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: 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: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.020 1.000 2 2006 2010
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019