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: rs80356517
rs80356517
FLNB
2 0.925 0.080 3 58108461 stop gained C/T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs121908897
rs121908897
FLNB
1 1.000 0.080 3 58148771 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908898
rs121908898
FLNB
1 1.000 0.080 3 58146043 stop gained G/T snv 4.0E-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: rs1553701033
rs1553701033
FLNB
1 1.000 0.080 3 58123409 frameshift variant GTGAAGCTGG/- delins 0.700 0
dbSNP: rs1553703909
rs1553703909
FLNB
1 1.000 0.080 3 58136073 frameshift variant ATTG/- delins 0.700 0
dbSNP: rs1555527166
rs1555527166
MYH3
2 0.925 0.080 17 10648563 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
7 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
dbSNP: rs1567556169
rs1567556169
MYH3
1 1.000 0.080 17 10639786 frameshift variant A/- delins 0.700 0
dbSNP: rs1567557697
rs1567557697
MYH3
1 1.000 0.080 17 10642265 missense variant A/C 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: rs746105983
rs746105983
FLNB
1 1.000 0.080 3 58104061 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs771300756
rs771300756
MYH3
2 0.925 0.080 17 10641342 frameshift variant AAATT/- delins 8.0E-06 0.700 0
dbSNP: rs80356519
rs80356519
FLNB
2 0.925 0.080 3 58110138 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80356520
rs80356520
FLNB
2 0.925 0.080 3 58136126 stop gained C/G;T snv 3.6E-05 0.700 0
dbSNP: rs80356521
rs80356521
FLNB
2 0.925 0.080 3 58153412 frameshift variant C/- delins 0.700 0
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017