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: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
0.010 1.000 1 2012 2012
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.010 1.000 1 2019 2019
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm
0.010 1.000 1 2011 2011
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0585475
Disease: Pilomatrix carcinoma of skin
Pilomatrix carcinoma of skin
0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma
0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
Supratentorial Embryonal Tumor, Not Otherwise Specified
0.010 1.000 1 2001 2001
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2003 2003
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 1.000 1 1998 1998
dbSNP: rs121913407
rs121913407
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 < 0.001 1 2019 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.010 1.000 1 2019 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 1.000 1 2017 2017
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 1.000 1 2015 2015
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 1.000 1 2002 2002
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 1.000 1 2015 2015
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
0.010 1.000 1 2002 2002
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.010 1.000 1 2017 2017
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma
0.010 1.000 1 2016 2016
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
Paranasal sinus teratocarcinosarcoma (type)
0.010 1.000 1 2017 2017