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: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 1.000 7 1998 2019
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.060 1.000 6 2015 2019
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0016048
Disease: Fibromatosis
Fibromatosis
0.020 1.000 2 2012 2013
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 1.000 1 1998 1998
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2019 2019
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 1.000 1 2015 2015
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma
0.010 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 1.000 1 2015 2015
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2018 2018