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: rs12757436
rs12757436
LOC105372932
1 1 221458596 regulatory region variant G/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs1392140
rs1392140 		1 1 55636149 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1472565
rs1472565
CAPZB
2 1 19428536 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs148815882
rs148815882 		1 1 81187099 intergenic variant A/T snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs187799739
rs187799739
RPRD2
2 1 150452900 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1890683
rs1890683 		1 1 9381418 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1977900
rs1977900
MIGA1
1 1 77816056 intron variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs1986405
rs1986405
NR5A2
1 1 200126807 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs200154334
rs200154334 		2 1 118319448 regulatory region variant TATA/-;TA;TATATA delins 0.700 1.000 1 2017 2017
dbSNP: rs2057388
rs2057388
HMCN1
1 1 186122944 splice region variant A/C;T snv 0.47; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2146098
rs2146098
HMCN1
1 1 186121238 intron variant A/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2502136
rs2502136 		1 1 199737302 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2749418
rs2749418
SCMH1 ; SLFNL1-AS1
1 1 41044002 intron variant T/C snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs2816992
rs2816992
NR5A2 ; LOC107985244
4 0.925 0.040 1 200100088 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs2821332
rs2821332
NR5A2
1 1 200116586 intron variant T/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs2821411
rs2821411 		1 1 164398568 intergenic variant T/C snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs28613267
rs28613267 		2 1 218681687 intergenic variant G/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs28646156
rs28646156 		1 1 218667969 regulatory region variant A/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2897048
rs2897048
WDR26
1 1 224423205 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2999158
rs2999158
MOV10
1 1 112696856 intron variant T/C snv 0.73 0.74 0.700 1.000 1 2019 2019
dbSNP: rs35091490
rs35091490
VWA5B1
1 1 20338917 3 prime UTR variant C/T snv 3.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs360639
rs360639
SYCP1
1 1 114879689 intron variant T/G snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs3747973
rs3747973 		1 1 205708020 downstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3766889
rs3766889
RYR2
2 1 237778481 intron variant T/G snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs3850625
rs3850625
CACNA1S
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 1 2019 2019