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: rs34091239
rs34091239 		1.000 15 40729928 frameshift variant A/-;AA delins
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		0.700 1.000 1 2011 2011
dbSNP: rs5030789
rs5030789 		0.925 0.080 15 40694157 non coding transcript exon variant A/C;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5030789
rs5030789 		0.925 0.080 15 40694157 non coding transcript exon variant A/C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs752492487
rs752492487 		15 40718847 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs199925463
rs199925463 		1.000 15 40729620 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		0.700 1.000 1 2011 2011
dbSNP: rs4417527
rs4417527 		0.882 0.120 15 40729082 intron variant C/G snv 0.22
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4417527
rs4417527 		0.882 0.120 15 40729082 intron variant C/G snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4417527
rs4417527 		0.882 0.120 15 40729082 intron variant C/G snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 8 2000 2015
dbSNP: rs1057519413
rs1057519413 		0.925 0.120 15 40729955 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2014 2015
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: 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
dbSNP: rs2412546
rs2412546 		0.925 0.080 15 40714325 intron variant G/A snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7180135
rs7180135 		1.000 0.120 15 40731896 3 prime UTR variant G/A snv 0.64
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1555429623
rs1555429623 		1.000 15 40729609 missense variant G/A snv
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0