Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777713
rs587777713
FIG4 ; AK9
1.000 0.080 6 109691485 missense variant T/C snv 2.1E-05
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
0.700 1.000 3 2007 2011
dbSNP: rs10499052
rs10499052
AK9
6 109564272 missense variant G/A snv 0.24 0.21
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs11755641
rs11755641
AK9
1.000 0.040 6 109586733 intron variant A/T snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs12199154
rs12199154
AK9
1.000 0.040 6 109501793 intron variant A/G snv 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs12529505
rs12529505
AK9
1.000 0.040 6 109625358 intron variant G/A snv 0.20
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs12529505
rs12529505
AK9
1.000 0.040 6 109625358 intron variant G/A snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs1321329
rs1321329
AK9
1.000 0.040 6 109659593 intron variant C/T snv 2.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs13214717
rs13214717
AK9
6 109573151 intron variant C/A snv 0.24
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs2024850
rs2024850
AK9
1.000 0.040 6 109497253 intron variant A/G snv 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2145144
rs2145144
AK9
1.000 0.040 6 109686055 intron variant C/A snv 0.43
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2277114
rs2277114
AK9
1.000 0.040 6 109506513 missense variant C/T snv 0.41 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs2357128
rs2357128
AK9
1.000 0.040 6 109588855 intron variant A/G snv 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs4523125
rs4523125
AK9
1.000 0.040 6 109607743 intron variant A/G snv 0.57
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs4946992
rs4946992
AK9
1.000 0.040 6 109606805 intron variant T/C snv 0.57
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs6568591
rs6568591
AK9
1.000 0.040 6 109671681 intron variant C/T snv 0.71
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs6916579
rs6916579
AK9
1.000 0.040 6 109530435 intron variant A/G snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs6925886
rs6925886
AK9
1.000 0.040 6 109557312 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs729888
rs729888
AK9
1.000 0.040 6 109636120 intron variant C/T snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs7356790
rs7356790
AK9
1.000 0.040 6 109643966 intron variant T/C snv 8.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs749517
rs749517
AK9
1.000 0.040 6 109531713 intron variant G/A snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs76782312
rs76782312
AK9
1.000 0.040 6 109643865 intron variant C/T snv 1.6E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.700 1.000 1 2019 2019
dbSNP: rs76782312
rs76782312
AK9
1.000 0.040 6 109643865 intron variant C/T snv 1.6E-02
CUI: C0037369
Disease: Smoking
Smoking
0.700 1.000 1 2019 2019
dbSNP: rs7745469
rs7745469
AK9
1.000 0.040 6 109641923 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs7749910
rs7749910
AK9
1.000 0.040 6 109642414 intron variant A/G snv 0.57
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs7767805
rs7767805
AK9
1.000 0.040 6 109676326 intron variant G/T snv 7.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017