Source: ALL

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: rs387907206
rs387907206
1.000 12 25225625 missense variant T/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 5 2006 2012
dbSNP: rs1463850736
rs1463850736
12 25225676 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 < 0.001 1 2018 2018
dbSNP: rs200970347
rs200970347
1.000 12 25215476 missense variant C/T snv 5.5E-04 3.0E-04
CUI: C1167791
Disease: Skin toxicity
Skin toxicity
0.010 1.000 1 2010 2010
dbSNP: rs757816355
rs757816355
12 25225657 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2014 2014
dbSNP: rs953088090
rs953088090
12 25227262 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2019 2019
dbSNP: rs953088090
rs953088090
12 25227262 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs606231202
rs606231202
1.000 0.040 12 25245355 inframe insertion -/CCA delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 0
dbSNP: rs121913538
rs121913538
0.882 0.080 12 25245328 missense variant C/A;G snv
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.700 1.000 2 2014 2014
dbSNP: rs104886028
rs104886028
1.000 0.080 12 25227308 missense variant C/T snv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
0.010 1.000 1 2013 2013
dbSNP: rs1137188
rs1137188
1.000 0.080 12 25206418 3 prime UTR variant G/A snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1137188
rs1137188
1.000 0.080 12 25206418 3 prime UTR variant G/A snv 0.49
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs121913538
rs121913538
0.882 0.080 12 25245328 missense variant C/A;G snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs121913538
rs121913538
0.882 0.080 12 25245328 missense variant C/A;G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2015 2015
dbSNP: rs560890523
rs560890523
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs560890523
rs560890523
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2017 2017
dbSNP: rs560890523
rs560890523
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2017 2017
dbSNP: rs57698689
rs57698689
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2017 2017
dbSNP: rs57698689
rs57698689
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2017 2017
dbSNP: rs61761074
rs61761074
1.000 0.080 12 25244659 intron variant A/C snv 2.7E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs749177256
rs749177256
1.000 0.080 12 25215538 missense variant G/A snv 4.0E-06
CUI: C1096184
Disease: West Nile viral infection
West Nile viral infection
0.010 1.000 1 2018 2018
dbSNP: rs7960917
rs7960917
1.000 0.080 12 25208712 3 prime UTR variant T/C snv 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2020 2020
dbSNP: rs7973450
rs7973450
0.882 0.080 12 25208208 3 prime UTR variant A/G snv 0.20
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs7973450
rs7973450
0.882 0.080 12 25208208 3 prime UTR variant A/G snv 0.20
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs7973450
rs7973450
0.882 0.080 12 25208208 3 prime UTR variant A/G snv 0.20
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs8720
rs8720
1.000 0.080 12 25206009 3 prime UTR variant T/C snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2020 2020