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: rs6801957
rs6801957
SCN10A
7 1.000 0.080 3 38725824 intron variant T/C snv 0.67 0.800 1.000 6 2011 2019
dbSNP: rs3807989
rs3807989
CAV1
2 1.000 0.080 7 116546187 intron variant A/G snv 0.53 0.800 1.000 5 2010 2019
dbSNP: rs11773845
rs11773845
CAV1
4 0.925 0.120 7 116551247 intron variant C/A snv 0.53 0.800 1.000 4 2012 2019
dbSNP: rs3922844
rs3922844
SCN5A
3 3 38582762 intron variant T/C snv 0.61 0.800 1.000 4 2011 2019
dbSNP: rs6795970
rs6795970
SCN10A
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.800 1.000 4 2010 2019
dbSNP: rs11708996
rs11708996
SCN5A
6 0.925 0.120 3 38592432 intron variant G/C snv 0.11 0.800 1.000 3 2010 2019
dbSNP: rs3891585
rs3891585
MEIS1
1 2 66529844 intron variant A/C;G snv 0.800 1.000 3 2011 2019
dbSNP: rs6800541
rs6800541
SCN10A
3 1.000 0.080 3 38733341 intron variant C/T snv 0.70 0.800 1.000 3 2010 2019
dbSNP: rs7433306
rs7433306
SCN10A
1 3 38729148 intron variant C/G snv 0.70 0.800 1.000 3 2011 2019
dbSNP: rs10865355
rs10865355
MEIS1
1 2 66537865 intron variant A/G snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs11047543
rs11047543
LOC105369698
2 1.000 0.080 12 24635405 intergenic variant G/A snv 0.12 0.800 1.000 2 2010 2019
dbSNP: rs11732231
rs11732231
ARHGAP24
1 4 85762407 intron variant G/C;T snv 0.800 1.000 2 2012 2019
dbSNP: rs11897119
rs11897119
MEIS1
3 2 66544868 intron variant T/A;C snv 0.800 1.000 2 2010 2019
dbSNP: rs1895585
rs1895585
TBX5
1 12 114364333 intron variant A/G;T snv 0.800 1.000 2 2011 2012
dbSNP: rs1896312
rs1896312 		1 12 114908619 intergenic variant C/T snv 0.71 0.800 1.000 2 2010 2018
dbSNP: rs6599222
rs6599222
SCN5A
1 3 38606571 intron variant C/T snv 0.80 0.800 1.000 2 2011 2019
dbSNP: rs6599250
rs6599250
SCN10A
1 3 38742538 intron variant T/C snv 0.65 0.70 0.800 1.000 2 2011 2018
dbSNP: rs6798015
rs6798015
SCN10A
2 1.000 0.080 3 38757345 intron variant C/T snv 0.70 0.800 1.000 2 2011 2019
dbSNP: rs7692808
rs7692808
ARHGAP24
1 4 85719996 intron variant A/G;T snv 0.800 1.000 2 2010 2019
dbSNP: rs251253
rs251253 		2 1.000 0.040 5 173053333 upstream gene variant C/T snv 0.51 0.800 1.000 1 2010 2010
dbSNP: rs267567
rs267567
ITGA9
1 3 37532533 intron variant G/A snv 0.38 0.800 1.000 1 2012 2012
dbSNP: rs4944092
rs4944092
WNT11
1 11 76198575 intron variant A/G snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs6763048
rs6763048
SCN5A
1 3 38639903 intron variant A/G snv 0.16 0.800 1.000 1 2012 2012
dbSNP: rs7312625
rs7312625
TBX5
3 1.000 0.080 12 114362169 intron variant G/A snv 0.71 0.800 1.000 1 2011 2011
dbSNP: rs11763856
rs11763856 		1 7 35506177 intron variant C/T snv 1.9E-02 0.700 1.000 2 2018 2019