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: rs148149124
rs148149124 		15 43382233 intron variant TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA delins
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs148149124
rs148149124 		15 43382233 intron variant TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA delins
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs200092283
rs200092283 		0.925 0.160 15 43403697 synonymous variant G/T snv 3.0E-04 3.3E-04
CUI: C3502492
Disease: Microcephaly with Chorioretinopathy, Autosomal Recessive
Microcephaly with Chorioretinopathy, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs201393666
rs201393666 		15 43385781 intron variant C/A snv 2.3E-02 2.1E-02
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs200092283
rs200092283 		0.925 0.160 15 43403697 synonymous variant G/T snv 3.0E-04 3.3E-04
CUI: C4225362
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		0.700 0
dbSNP: rs794726855
rs794726855 		1.000 15 43383359 frameshift variant -/T delins
CUI: C4225362
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		0.700 0
dbSNP: rs794726856
rs794726856 		1.000 15 43376592 frameshift variant T/- delins
CUI: C4225362
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		0.700 0