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: rs2517388
rs2517388 		0.925 0.080 8 38120214 intron variant T/G snv 0.24
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 2 2012 2013
dbSNP: rs2720044
rs2720044 		8 38123069 intron variant A/C snv 0.12
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs1060499744
rs1060499744 		1.000 8 38138822 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1060499744
rs1060499744 		1.000 8 38138822 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs2517388
rs2517388 		0.925 0.080 8 38120214 intron variant T/G snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2517388
rs2517388 		0.925 0.080 8 38120214 intron variant T/G snv 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012