SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
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: rs121909484
rs121909484 		1.000 0.080 3 155853659 missense variant A/C snv
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2008 2015
dbSNP: rs281875283
rs281875283 		1.000 3 155853670 missense variant C/G snv
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.800 1.000 1 2012 2012
dbSNP: rs112013645
rs112013645 		3 155849886 intron variant C/T snv 0.20
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1991545
rs1991545 		1.000 0.040 3 155834522 intron variant G/A snv 0.21
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs382534
rs382534 		3 155829485 intron variant C/T snv 0.20
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs390677
rs390677 		3 155835414 intron variant C/T snv 0.20
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs863223316
rs863223316 		1.000 3 155853383 frameshift variant -/A delins
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 0