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: rs1535462
rs1535462 		1 1.000 0.040 10 101214115 TF binding site variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs3950032
rs3950032 		1 1.000 0.040 10 101214352 TF binding site variant A/C;G;T snv 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: rs200590764
rs200590764 		1 1.000 0.040 10 101216904 intergenic variant -/T delins 6.6E-03 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: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 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: 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: 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: 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: 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: 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: 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: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
7 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
5 0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1567558314
rs1567558314
MYH3
7 0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 0.700 0
dbSNP: rs1567564042
rs1567564042
MYH3
6 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
dbSNP: rs557849165
rs557849165
MYH3
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
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: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs397507542
rs397507542
PTPN11
9 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
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: 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