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: rs796051884
rs796051884
MYH3
1 1.000 0.080 17 10639068 missense variant T/G snv 0.800 1.000 1 2015 2015
dbSNP: rs1555527166
rs1555527166
MYH3
2 0.925 0.080 17 10648563 inframe deletion GAG/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1567559562
rs1567559562
MYH3
1 1.000 0.080 17 10645933 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1567560080
rs1567560080
MYH3
1 1.000 0.080 17 10647221 missense variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs878853126
rs878853126
MYH3
1 1.000 0.080 17 10639075 inframe insertion -/ATT delins 0.700 1.000 1 2015 2015
dbSNP: rs121913623
rs121913623
MYH3
3 0.882 0.080 17 10648592 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
5 0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
7 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
dbSNP: rs1567558314
rs1567558314
MYH3
7 0.807 0.080 17 10643215 intron variant CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- delins 0.700 0
dbSNP: rs1567564042
rs1567564042
MYH3
6 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
dbSNP: rs557849165
rs557849165
MYH3
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
dbSNP: rs771300756
rs771300756
MYH3
2 0.925 0.080 17 10641342 frameshift variant AAATT/- delins 8.0E-06 0.700 0