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: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.840 0.500 1 2011 2019
dbSNP: rs12941356
rs12941356 		17 17813217 3 prime UTR variant A/G snv 0.46
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs187408367
rs187408367 		1.000 0.080 17 17835546 intron variant G/A snv 3.8E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4925115
rs4925115 		1.000 0.080 17 17818143 non coding transcript exon variant A/G snv 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012