Source: BEFREE

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: rs1200462604
rs1200462604
1.000 0.040 13 28028234 missense variant G/A snv 4.0E-06
CUI: C0205788
Disease: Histiocytoid hemangioma
Histiocytoid hemangioma
0.010 1.000 1 2018 2018
dbSNP: rs371663652
rs371663652
1.000 0.040 13 28062006 missense variant C/T snv 4.0E-05 6.3E-05
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma
0.010 1.000 1 2018 2018
dbSNP: rs121913488
rs121913488
0.807 0.120 13 28018505 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.740 1.000 4 2001 2019
dbSNP: rs1057519764
rs1057519764
1.000 0.040 13 28027222 missense variant A/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 1 2012 2019
dbSNP: rs12430881
rs12430881
1.000 0.120 13 28020665 intron variant T/C snv 0.28
Precursor B-cell lymphoblastic leukemia
0.010 1.000 1 2019 2019
dbSNP: rs2491231
rs2491231
0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs2491231
rs2491231
0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs35958982
rs35958982
1.000 0.120 13 28034336 missense variant C/T snv 1.3E-02 5.0E-02
Precursor B-cell lymphoblastic leukemia
0.010 1.000 1 2019 2019
dbSNP: rs759272576
rs759272576
1.000 0.040 13 28027224 missense variant A/G snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 1.000 1 2019 2019