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: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
Nongerminomatous Germ Cell Tumor
0.700 0
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
ASTROCYTOMA, LOW-GRADE, SOMATIC
0.700 0
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter
0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.010 < 0.001 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0848860
Disease: endocrine carcinoma
endocrine carcinoma
0.010 1.000 1 2004 2004
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0391970
Disease: Carcinoid tumor, malignant
Carcinoid tumor, malignant
0.010 1.000 1 2004 2004
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Familial Nonmedullary Thyroid Cancer
0.010 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0206769
Disease: Nevi and Melanomas
Nevi and Melanomas
0.010 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Hereditary nonpolyposis colorectal carcinoma
0.010 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.010 < 0.001 1 2006 2006
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0850639
Disease: premalignant lesion
premalignant lesion
0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Human immunodeficiency virus (HIV) II infection category B1
0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid
0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0022593
Disease: Keratosis
Keratosis
0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 < 0.001 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0334359
Disease: Papillary serous cystadenocarcinoma
Papillary serous cystadenocarcinoma
0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris
0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
0.030 1.000 3 2005 2008