RCOR1, REST corepressor 1, 23186

N. diseases: 2; N. variants: 6
Source: CURATED ×
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: rs10132160
rs10132160 		14 102591686 upstream gene variant A/G snv 0.80
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11382616
rs11382616 		14 102615129 intron variant C/-;CC;CCC;CCCC;CCCCC delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11627756
rs11627756 		14 102630269 intron variant C/T snv 0.62
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11628569
rs11628569 		14 102724025 intron variant A/G snv 0.24
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1190335
rs1190335 		14 102645021 intron variant T/C;G snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs1190335
rs1190335 		14 102645021 intron variant T/C;G snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs754404879
rs754404879 		1.000 0.160 14 102701275 splice region variant C/T snv 2.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2016 2016