RAD51B, RAD51 paralog B, 5890

N. diseases: 126; N. variants: 108
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: rs764896402
rs764896402 		1.000 0.200 14 67823627 splice region variant G/A snv 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs764896402
rs764896402 		1.000 0.200 14 67823627 splice region variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs749856572
rs749856572 		1.000 0.040 14 67835182 stop gained G/A;T snv 4.0E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs72725119
rs72725119 		14 67862303 intron variant G/A snv 0.12
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs61755649
rs61755649 		0.882 0.160 14 67885891 missense variant C/T snv 6.8E-05 4.9E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61755649
rs61755649 		0.882 0.160 14 67885891 missense variant C/T snv 6.8E-05 4.9E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61755649
rs61755649 		0.882 0.160 14 67885891 missense variant C/T snv 6.8E-05 4.9E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs199981178
rs199981178 		0.925 0.080 14 67885957 missense variant C/G;T snv 4.0E-06; 1.2E-03 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs199981178
rs199981178 		0.925 0.080 14 67885957 missense variant C/G;T snv 4.0E-06; 1.2E-03 7.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28649231
rs28649231 		14 67956498 intron variant G/A snv 0.18
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs369495964
rs369495964 		14 68014850 intron variant AAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA delins 0.16
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs140825531
rs140825531 		1.000 0.120 14 68021957 intron variant G/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11158716
rs11158716 		14 68026441 intron variant G/A snv 0.17
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11158716
rs11158716 		14 68026441 intron variant G/A snv 0.17
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs72725174
rs72725174 		14 68044056 intron variant C/T snv 0.13
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11158717
rs11158717 		14 68047559 intron variant A/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs8022206
rs8022206 		14 68054189 intron variant G/A snv 0.18
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs8022206
rs8022206 		14 68054189 intron variant G/A snv 0.18
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs144403523
rs144403523 		14 68092619 intron variant T/C snv 0.17
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs2588827
rs2588827 		1.000 0.080 14 68147724 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2588819
rs2588819 		1.000 0.080 14 68161963 intron variant T/C snv 0.87
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2588818
rs2588818 		1.000 0.080 14 68163861 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1952246
rs1952246 		1.000 0.080 14 68165095 intron variant G/A snv 0.89
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2243905
rs2243905 		1.000 0.080 14 68166696 intron variant G/A snv 0.83
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2767384
rs2767384 		1.000 0.080 14 68169994 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012