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: rs121908457
rs121908457
MYOT ; LOC101928005
13 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 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: rs869320701
rs869320701
DNAJB6
8 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0