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: rs16858828
rs16858828
PHLDB2
1 3 111911940 intron variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs75041531
rs75041531
WIPF2
1 17 40236899 intron variant A/C snv 8.2E-03 0.700 1.000 1 2013 2013
dbSNP: rs76270203
rs76270203 		1 12 113499191 intergenic variant A/C snv 2.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs76439045
rs76439045
ZNF184
1 6 27443950 intergenic variant A/C snv 1.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs8087073
rs8087073
LPIN2 ; LOC105371963
1 18 2967847 intron variant A/C snv 3.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs3891585
rs3891585
MEIS1
1 2 66529844 intron variant A/C;G snv 0.800 1.000 3 2011 2019
dbSNP: rs718426
rs718426
MICU2
1 13 21511520 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs73276602
rs73276602
ABCB5
1 7 20642227 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs6599255
rs6599255
SCN10A
2 3 38754924 intron variant A/C;T snv 0.700 1.000 1 2011 2011
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: 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: rs10865355
rs10865355
MEIS1
1 2 66537865 intron variant A/G snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs116755262
rs116755262 		1 6 44487396 intergenic variant A/G snv 2.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs12127701
rs12127701
MYBPHL
4 1 109295642 intron variant A/G snv 6.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs17287293
rs17287293
LOC105369698
4 1.000 0.080 12 24617944 intergenic variant A/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs1895595
rs1895595
LOC105369998
1 12 114419889 regulatory region variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs2503715
rs2503715
FAAP20
1 1 2212668 non coding transcript exon variant A/G snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs35712872
rs35712872
MYOCD
1 17 12732554 intron variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs3856447
rs3856447
LOC105373411
1 2 8610136 intron variant A/G snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs4430933
rs4430933
MEIS1
1 2 66522478 intron variant A/G snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs4433986
rs4433986
MEIS1
1 2 66533179 intron variant A/G snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs45567533
rs45567533
SCN5A
1 3 38630069 non coding transcript exon variant A/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs4767237
rs4767237
TBX5
1 12 114363008 intron variant A/G snv 0.71 0.700 1.000 1 2011 2011
dbSNP: rs4944092
rs4944092
WNT11
1 11 76198575 intron variant A/G snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs6489973
rs6489973
LOC105370000
1 12 114718718 intron variant A/G snv 0.35 0.700 1.000 1 2019 2019