RAP1GAP, RAP1 GTPase activating protein, 5909

N. diseases: 63; N. variants: 4
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: rs2275360
rs2275360 		1 21617327 synonymous variant G/A snv 0.32 0.26
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2275360
rs2275360 		1 21617327 synonymous variant G/A snv 0.32 0.26
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		0.700 1.000 1 2018 2018
dbSNP: rs77972946
rs77972946 		1 21628472 intron variant C/A;G;T snv
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs829375
rs829375 		1 21664742 intron variant G/A;C snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs147394161
rs147394161 		0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs147394161
rs147394161 		0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2010 2010