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: rs28934589
rs28934589
SLC25A20
1 1.000 0.080 3 48859097 missense variant T/C snv 0.800 1.000 3 2003 2004
dbSNP: rs541208710
rs541208710
SLC25A20
1 1.000 0.080 3 48884134 intron variant A/C snv 7.2E-05 2.8E-05 0.700 1.000 8 2000 2015
dbSNP: rs757552268
rs757552268
SLC25A20
1 1.000 0.080 3 48883996 splice donor variant C/- delins 3.6E-05 2.1E-05 0.700 1.000 4 2001 2015
dbSNP: rs577331691
rs577331691
SLC25A20
1 1.000 0.080 3 48859119 missense variant C/G snv 0.700 1.000 3 2003 2004
dbSNP: rs778220325
rs778220325
SLC25A20
1 1.000 0.080 3 48862545 stop gained G/A snv 2.8E-05 4.9E-05 0.700 1.000 2 2003 2015
dbSNP: rs151340616
rs151340616
SLC25A20
1 1.000 0.080 3 48862581 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1553684897
rs1553684897
SLC25A20
1 1.000 0.080 3 48862571 frameshift variant -/A delins 0.700 0
dbSNP: rs1553686314
rs1553686314
SLC25A20
1 1.000 0.080 3 48883996 splice acceptor variant AGCACATCTTCTGGGTGTTTCTGTTGTAGTTTCTTCCCCAAACCAAACCCAAAGAAGCACACGGCAAACATGGGAGTGACCCCGATGATAGGGGCAGCCATTCCCCGATATAGCCCCGTGATGCCCTG/- delins 0.700 0
dbSNP: rs1553686321
rs1553686321
SLC25A20
1 1.000 0.080 3 48884031 stop gained T/A snv 0.700 0
dbSNP: rs587776759
rs587776759
SLC25A20
1 1.000 0.080 3 48857718 frameshift variant -/G delins 0.700 0
dbSNP: rs587776760
rs587776760
SLC25A20
1 1.000 0.080 3 48898711 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs587777286
rs587777286
SLC25A20
1 1.000 0.080 3 48859587 stop gained C/T snv 0.700 0
dbSNP: rs587777287
rs587777287
SLC25A20
1 1.000 0.080 3 48892074 splice acceptor variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs748394731
rs748394731
SLC25A20
1 1.000 0.080 3 48879378 missense variant G/A;C snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs756998699
rs756998699
SLC25A20
1 1.000 0.080 3 48898785 stop gained G/A;C snv 1.7E-05 0.700 0
dbSNP: rs745490594
rs745490594
SLC25A20
1 1.000 0.080 3 48898794 start lost T/C snv 5.8E-06 0.010 1.000 1 2017 2017