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: rs1555935486
rs1555935486
PDHA1 ; MAP3K15
1 1.000 0.120 X 19359529 inframe insertion -/CCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCG delins 0.700 1.000 1 2011 2011
dbSNP: rs1569190079
rs1569190079
PDHA1
10 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
dbSNP: rs1064794149
rs1064794149
PDHA1
2 0.925 0.120 X 19358921 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs373182816
rs373182816
LONP1
1 1.000 0.120 19 5694425 missense variant G/A snv 8.0E-06 9.8E-05 0.010 1.000 1 2019 2019