rs147021911, FANCM

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 1.000 6 2005 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 0
PREMATURE OVARIAN FAILURE 15
CUI: C4748170
Disease: PREMATURE OVARIAN FAILURE 15
1 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 0
SPERMATOGENIC FAILURE 28
CUI: C4748117
Disease: SPERMATOGENIC FAILURE 28
5 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.030 1.000 3 2016 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.030 1.000 3 2016 2017
Non-obstructive azoospermia
CUI: C4021107
Disease: Non-obstructive azoospermia
88 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.010 1.000 1 2018 2018
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
115 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.010 1.000 1 2017 2017