RSPO1, R-spondin 1, 284654

N. diseases: 81; N. variants: 3
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: rs4074961
rs4074961 		1.000 0.040 1 37627051 intron variant C/T snv 0.39
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs12039431
rs12039431 		1.000 0.120 1 37616450 intron variant G/A snv 0.24 0.21
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4074961
rs4074961 		1.000 0.040 1 37627051 intron variant C/T snv 0.39
CUI: C0429494
Disease: Ocular axial length
Ocular axial length 		0.700 1.000 1 2013 2013
dbSNP: rs58722170
rs58722170 		0.925 0.120 1 37630749 intron variant G/C snv 0.20
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs58722170
rs58722170 		0.925 0.120 1 37630749 intron variant G/C snv 0.20
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4074961
rs4074961 		1.000 0.040 1 37627051 intron variant C/T snv 0.39
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2016 2016