MYO19, myosin XIX, 80179

N. diseases: 5; 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: rs587777733
rs587777733 		1.000 17 36537312 missense variant A/C;G snv 4.0E-06
CUI: C4014958
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 		0.800 1.000 1 2014 2014
dbSNP: rs200024253
rs200024253 		1.000 17 36537600 missense variant A/G snv 4.0E-06
CUI: C4014958
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 		0.800 0
dbSNP: rs2306593
rs2306593 		17 36510707 intron variant C/T snv 0.45 0.43
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs2306590
rs2306590 		17 36498436 missense variant G/A snv 0.34 0.30
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs2411192
rs2411192 		1.000 0.080 17 36527167 intron variant A/T snv 0.28
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2411192
rs2411192 		1.000 0.080 17 36527167 intron variant A/T snv 0.28
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs8070260
rs8070260 		17 36511076 non coding transcript exon variant A/G snv 0.49
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1256773607
rs1256773607 		1.000 17 36537561 missense variant A/G snv 2.1E-05
CUI: C4014958
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 		0.700 0