RFWD3, ring finger and WD repeat domain 3, 55159

N. diseases: 119; N. variants: 5
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: rs4888262
rs4888262 		1.000 0.120 16 74636560 synonymous variant C/T snv 0.54 0.59
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 3 2013 2017
dbSNP: rs1555524842
rs1555524842 		0.882 0.120 16 74628505 missense variant A/T snv
CUI: C4521564
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.800 1.000 2 2017 2017
dbSNP: rs4888262
rs4888262 		1.000 0.120 16 74636560 synonymous variant C/T snv 0.54 0.59
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7193541
rs7193541 		1.000 0.160 16 74630845 missense variant T/C snv 0.37 0.43
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7193541
rs7193541 		1.000 0.160 16 74630845 missense variant T/C snv 0.37 0.43
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7201320
rs7201320 		16 74660160 intron variant T/G snv 0.59
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1205970095
rs1205970095 		1.000 16 74661244 frameshift variant -/GG delins 4.0E-06
CUI: C4521564
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.700 0
dbSNP: rs1555524842
rs1555524842 		0.882 0.120 16 74628505 missense variant A/T snv
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 0.010 1.000 1 2017 2017
dbSNP: rs1555524842
rs1555524842 		0.882 0.120 16 74628505 missense variant A/T 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 2017 2017