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: rs1555216163
rs1555216163
MYF5
4 0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 0.700 0
dbSNP: rs1565864693
rs1565864693
MYF5
4 0.851 0.160 12 80717346 missense variant C/T snv 0.700 0
dbSNP: rs1569484022
rs1569484022
COX1 ; COX2 ; ND2 ; TRNN
1 1.000 0.120 MT 5667 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs201439531
rs201439531
CHAT
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs769234940
rs769234940
CHAT
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018