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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2011 2011
dbSNP: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs746536347
rs746536347
ATAD3B
3 0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs1199713333
rs1199713333
CACNA1C
2 0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751224055
rs751224055
CACNA1C
2 0.925 0.040 12 2674574 missense variant C/A;T snv 5.2E-06; 5.2E-06 0.010 1.000 1 2018 2018
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs750745310
rs750745310
DNM1L ; YARS2
3 0.882 0.040 12 32743390 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs779782995
rs779782995
HDAC9
2 0.925 0.040 7 18590438 missense variant A/G snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121917758
rs121917758
HRAS ; LRRC56
4 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs730880460
rs730880460
HRAS ; LRRC56
3 0.882 0.120 11 533877 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs143697995
rs143697995
MRPL44
3 0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs376477806
rs376477806
MYBPC1 ; LOC105369937
2 0.925 0.040 12 101648107 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs375882485
rs375882485
MYBPC3
5 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.020 1.000 2 2010 2018
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.020 1.000 2 2015 2019
dbSNP: rs1352376969
rs1352376969
MYBPC3
3 0.882 0.080 11 47341155 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs1412710023
rs1412710023
MYBPC3
3 0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06 0.010 1.000 1 2018 2018