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: rs756433029
rs756433029
TTN ; TTN-AS1 ; LOC101927055
1 2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs397517698
rs397517698
TTN ; TTN-AS1 ; LOC101927055
1 2 178775030 frameshift variant TTCT/- delins 0.700 0
dbSNP: rs869025559
rs869025559
TTN ; TTN-AS1
1 2 178562342 frameshift variant TT/- del 0.700 0
dbSNP: rs727503559
rs727503559
TTN ; TTN-AS1
2 1.000 0.040 2 178565120 frameshift variant TGGCAGCCACCAGTAT/- delins 0.700 0
dbSNP: rs727504825
rs727504825
TTN ; TTN-AS1
1 2 178614082 frameshift variant TGAACTGGTTCACCAACACC/- delins 0.700 0
dbSNP: rs727504394
rs727504394
TAZ
2 1.000 0.120 X 154420666 frameshift variant TG/- delins 0.700 0
dbSNP: rs869312038
rs869312038
TTN ; TTN-AS1
1 2 178740589 frameshift variant TG/- delins 7.0E-06 0.700 0
dbSNP: rs727503546
rs727503546
TTN ; TTN-AS1
1 2 178547178 frameshift variant TCTT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs730880246
rs730880246
TTN ; TTN-AS1
1 2 178533013 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 1.000 1 2003 2003
dbSNP: rs1407369744
rs1407369744
ACTN2
2 1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.010 1.000 1 2005 2005
dbSNP: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs397516364
rs397516364
TPM1
3 0.925 0.080 15 63042852 missense variant T/G snv 0.700 1.000 1 2000 2000
dbSNP: rs143139258
rs143139258
MYL2
4 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 0.700 0
dbSNP: rs6716782
rs6716782
TTN ; TTN-AS1
1 2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04 0.700 0
dbSNP: rs869025398
rs869025398
DSP
1 6 7567451 splice donor variant T/G snv 0.700 0
dbSNP: rs199476310
rs199476310
TPM1
1 15 63057019 missense variant T/C snv 0.700 1.000 2 2010 2011
dbSNP: rs267607593
rs267607593
LMNA
1 1 156134964 missense variant T/C snv 0.700 1.000 2 2003 2008
dbSNP: rs267607594
rs267607594
LMNA
3 0.925 0.120 1 156130745 missense variant T/C snv 0.700 1.000 2 2000 2008
dbSNP: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018