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: rs38855
rs38855
7 116717990 intron variant A/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.800 1.000 2 2013 2017
dbSNP: rs1057520030
rs1057520030
7 116777427 missense variant A/G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs1476454
rs1476454
7 116717314 intron variant A/G snv 0.26
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs35225896
rs35225896
7 116700032 missense variant A/G snv 1.6E-03 6.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs41741
rs41741
7 116798457 downstream gene variant G/T snv 0.64
Serum gamma-glutamyl transferase measurement
0.700 1.000 1 2018 2018
dbSNP: rs869320706
rs869320706
7 116771971 splice donor variant GAGCTACTTTTCCAGAAGGTATATTTC/- delins
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs869320707
rs869320707
7 116771990 splice donor variant G/T snv
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.720 1.000 3 2003 2015
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 1975 1975
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2015 2015
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
Differentiated Thyroid Gland Carcinoma
0.010 1.000 1 2005 2005
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.010 1.000 1 2015 2015
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs56391007
rs56391007
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018