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: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Aggressive periodontitis, generalized
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa
0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 1.000 1 2004 2004
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx
0.010 1.000 1 2016 2016
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Malignant Testicular Germ Cell Tumor
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Squamous cell carcinoma of esophagus
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 < 0.001 1 2015 2015
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 1.000 1 2017 2017
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1304119
Disease: Chronic stable plaque psoriasis
Chronic stable plaque psoriasis
0.010 1.000 1 2016 2016
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater
0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 1.000 1 2012 2012
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
0.010 1.000 1 2016 2016
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
0.010 1.000 1 2019 2019