Source: CURATED

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: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.730 0.750 1 2004 2018
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 1.000 1 2017 2017
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2018 2018
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.700 1.000 1 2018 2018