FANCM, FA complementation group M, 57697

N. diseases: 147; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2005 2016
dbSNP: rs8017226
rs8017226 		14 45175424 synonymous variant T/C snv 7.9E-03 3.0E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8017226
rs8017226 		14 45175424 synonymous variant T/C snv 7.9E-03 3.0E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1375421660
rs1375421660 		1.000 0.080 14 45188848 frameshift variant AT/- del 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C0346180
Disease: Malignant Ovarian Germ Cell Neoplasm
Malignant Ovarian Germ Cell Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C4748117
Disease: SPERMATOGENIC FAILURE 28
SPERMATOGENIC FAILURE 28 		0.700 0
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C4748117
Disease: SPERMATOGENIC FAILURE 28
SPERMATOGENIC FAILURE 28 		0.700 0
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C4748170
Disease: PREMATURE OVARIAN FAILURE 15
PREMATURE OVARIAN FAILURE 15 		0.700 0
dbSNP: rs1555363275
rs1555363275 		1.000 14 45167106 frameshift variant CAGAGAAGCCTTC/- delins
CUI: C4748117
Disease: SPERMATOGENIC FAILURE 28
SPERMATOGENIC FAILURE 28 		0.700 0
dbSNP: rs1555365959
rs1555365959 		1.000 14 45183764 intron variant A/G snv
CUI: C4748117
Disease: SPERMATOGENIC FAILURE 28
SPERMATOGENIC FAILURE 28 		0.700 0
dbSNP: rs1566761441
rs1566761441 		1.000 0.120 14 45175098 stop gained G/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566764032
rs1566764032 		1.000 0.120 14 45175902 stop gained G/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566766719
rs1566766719 		1.000 0.120 14 45176757 frameshift variant -/G ins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566775496
rs1566775496 		1.000 0.120 14 45183775 stop gained C/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs797045116
rs797045116 		1.000 14 45159189 frameshift variant -/A delins
CUI: C4748117
Disease: SPERMATOGENIC FAILURE 28
SPERMATOGENIC FAILURE 28 		0.700 0
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2015 2017
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2015 2017
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2016 2017
dbSNP: rs147021911
rs147021911 		0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2016 2017
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2017
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs144567652
rs144567652 		0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017