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: rs876661313
rs876661313
FLAD1
2 0.925 0.080 1 154988129 frameshift variant TTCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs876661314
rs876661314
FLAD1
1 1.000 0.080 1 154984015 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs876661315
rs876661315
FLAD1
1 1.000 0.080 1 154988230 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs119458969
rs119458969
ETFA
2 0.925 0.080 15 76286463 missense variant A/C snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs119458971
rs119458971
ETFA
2 0.925 0.080 15 76292436 missense variant C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs1298299792
rs1298299792
ETFA
1 1.000 0.080 15 76286437 frameshift variant AC/- delins 1.2E-05 0.700 0
dbSNP: rs1358691961
rs1358691961
ETFDH
1 1.000 0.080 4 158699051 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1442766122
rs1442766122
ETFDH
1 1.000 0.080 4 158706228 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1466787789
rs1466787789
ETFDH
1 1.000 0.080 4 158703447 missense variant G/C snv 0.700 0
dbSNP: rs1482632936
rs1482632936
ETFDH
1 1.000 0.080 4 158690406 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs398124151
rs398124151
ETFDH
1 1.000 0.080 4 158703540 stop gained G/T snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs748289922
rs748289922
ETFDH
1 1.000 0.080 4 158690393 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs751821289
rs751821289
ETFDH
1 1.000 0.080 4 158706269 missense variant C/T snv 4.0E-06 2.8E-05 0.700 0
dbSNP: rs796051962
rs796051962
ETFDH
1 1.000 0.080 4 158682314 frameshift variant -/GT delins 0.700 0
dbSNP: rs993314323
rs993314323
ETFDH
1 1.000 0.080 4 158706845 missense variant C/T snv 0.700 0
dbSNP: rs1177389968
rs1177389968
ETFDH
2 0.925 0.160 4 158684619 missense variant G/A snv 7.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs11559290
rs11559290
ETFDH
1 1.000 0.080 4 158680524 missense variant C/T snv 0.82 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1166778729
rs1166778729
TXNRD1
1 1.000 0.080 12 104315822 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1339093491
rs1339093491
ETHE1
2 0.925 0.200 19 43508031 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs760149442
rs760149442
MUC1
2 0.925 0.200 1 155187245 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006