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: rs104893748
rs104893748
2 0.925 0.080 3 46859511 missense variant T/C snv 0.700 0
dbSNP: rs104894369
rs104894369
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.700 0
dbSNP: rs104894828
rs104894828
3 0.882 0.160 X 101398467 missense variant C/A;T snv 0.700 0
dbSNP: rs104894845
rs104894845
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.700 0
dbSNP: rs1060501475
rs1060501475
1 1.000 0.080 11 47333647 frameshift variant C/- delins 0.700 0
dbSNP: rs1060505018
rs1060505018
1 1.000 0.080 14 23424817 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1064793202
rs1064793202
2 0.925 0.080 11 47333622 frameshift variant -/TT delins 0.700 0
dbSNP: rs121434467
rs121434467
COX1 ; ND1 ; ND2 ; TRNI
2 0.925 0.200 MT 4295 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs121434470
rs121434470
COX1 ; ND1 ; ND2 ; TRNI
1 1.000 0.080 MT 4300 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1 1.000 0.080 MT 9997 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs121908987
rs121908987
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121964857
rs121964857
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.700 0
dbSNP: rs143139258
rs143139258
4 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 0.700 0
dbSNP: rs1554401561
rs1554401561
1 1.000 0.080 7 128855243 missense variant G/C snv 0.700 0
dbSNP: rs1555121488
rs1555121488
2 0.925 0.080 11 47338681 splice acceptor variant T/- del 0.700 0
dbSNP: rs1555123743
rs1555123743
1 1.000 0.080 11 47351310 frameshift variant G/AA delins 0.700 0
dbSNP: rs1555336467
rs1555336467
1 1.000 0.080 14 23416211 inframe deletion CTC/- delins 0.700 0
dbSNP: rs1555408679
rs1555408679
1 1.000 0.080 15 63059648 missense variant A/G snv 0.700 0
dbSNP: rs1565624090
rs1565624090
1 1.000 0.080 11 47335078 frameshift variant -/A delins 0.700 0
dbSNP: rs1565625473
rs1565625473
1 1.000 0.080 11 47337725 frameshift variant -/C delins 0.700 0
dbSNP: rs1565625777
rs1565625777
1 1.000 0.080 11 47338519 frameshift variant -/CGAT delins 0.700 0
dbSNP: rs1565626409
rs1565626409
1 1.000 0.080 11 47339714 frameshift variant -/C delins 0.700 0
dbSNP: rs1565627566
rs1565627566
1 1.000 0.080 11 47342083 stop gained ACATTTGAACACCGC/CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG delins 0.700 0
dbSNP: rs1565628062
rs1565628062
1 1.000 0.080 11 47342865 frameshift variant C/- del 0.700 0
dbSNP: rs1565628486
rs1565628486
1 1.000 0.080 11 47343541 frameshift variant C/- del 0.700 0