TC2N, tandem C2 domains, nuclear, 123036

N. diseases: 17; N. variants: 17
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10467747
rs10467747
14 91858114 intron variant C/T snv 0.70
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs10498631
rs10498631
14 91802187 intron variant C/T snv 0.29
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement
0.700 1.000 1 2019 2019
dbSNP: rs10498632
rs10498632
14 91824400 intron variant A/G snv 0.29
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
0.700 1.000 1 2019 2019
dbSNP: rs10498632
rs10498632
14 91824400 intron variant A/G snv 0.29
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11160029
rs11160029
1.000 0.040 14 91853435 intron variant G/A snv 0.49
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs113207090
rs113207090
14 91793465 intron variant C/T snv 8.1E-03
Soluble Interleukin 6 Receptor Measurement
0.700 1.000 1 2017 2017
dbSNP: rs11846440
rs11846440
1.000 0.040 14 91842742 intron variant A/T snv 1.0E-01
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12891090
rs12891090
1.000 0.040 14 91851828 intron variant C/T snv 0.49
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12891605
rs12891605
1.000 0.040 14 91851990 intron variant G/A snv 0.49
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1548817
rs1548817
14 91866524 non coding transcript exon variant C/T snv 0.20
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs17127634
rs17127634
1.000 0.040 14 91858850 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1884840
rs1884840
1.000 0.040 14 91842981 intron variant A/G snv 0.56
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1884841
rs1884841
1.000 0.040 14 91842885 intron variant A/G snv 0.54
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2402074
rs2402074
1.000 0.040 14 91827174 intron variant A/G snv 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4904817
rs4904817
1.000 0.040 14 91852111 intron variant T/C snv 0.91
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4904820
rs4904820
14 91852591 intron variant G/A snv 0.53
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
0.700 1.000 1 2019 2019
dbSNP: rs4904820
rs4904820
14 91852591 intron variant G/A snv 0.53
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement
0.700 1.000 1 2019 2019
dbSNP: rs58204830
rs58204830
14 91836628 intron variant G/A snv 8.4E-02
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement
0.700 1.000 1 2019 2019
dbSNP: rs61237505
rs61237505
14 91779639 intron variant G/C snv 0.14
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016