Source: CURATED ×
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: rs886044514
rs886044514
CLTA ; GNE
2 1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs61865606
rs61865606
LOC105378568
1 10 132440647 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs104894294
rs104894294
RAPSN
2 1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs104894299
rs104894299
RAPSN
5 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
1 11 22270443 splice donor variant -/T delins 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs375014127
rs375014127
ANO5
5 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs4149056
rs4149056
SLCO1B1
11 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.790 1.000 1 2008 2019
dbSNP: rs564856283
rs564856283
MYBPC1
3 12 101642495 missense variant G/A;C snv 3.2E-05 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
21 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs28447350
rs28447350 		1 13 64923076 intergenic variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs2754158
rs2754158
MYH7
4 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
1 14 23416071 missense variant A/G snv 0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
4 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
dbSNP: rs1555420508
rs1555420508
CAPN3 ; LOC105370794
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
19 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs138058572
rs138058572
ACADVL ; MIR324
3 1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1555606959
rs1555606959
TCAP
2 1.000 0.120 17 39665391 frameshift variant -/G delins 0.700 0
dbSNP: rs386834236
rs386834236
GAA
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 0
dbSNP: rs545623839
rs545623839
MYH2 ; MYHAS
2 1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05 0.700 0
dbSNP: rs746361190
rs746361190
CNTNAP1
4 0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
3 1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 0.700 0