RAD51, RAD51 recombinase, 5888

N. diseases: 363; N. variants: 16
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: rs1057519413
rs1057519413 		0.925 0.120 15 40729955 missense variant G/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1247974770
rs1247974770 		15 40718820 missense variant G/T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1247974770
rs1247974770 		15 40718820 missense variant G/T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2412546
rs2412546 		0.925 0.080 15 40714325 intron variant G/A snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009