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: rs183716
rs183716 		19 54189703 5 prime UTR variant G/C snv 0.21
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs40357
rs40357 		19 54189676 5 prime UTR variant T/C;G snv 0.22
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs7595
rs7595 		19 54193224 synonymous variant T/C snv 0.20
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2012 2012
dbSNP: rs7595
rs7595 		19 54193224 synonymous variant T/C snv 0.20
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs113994150
rs113994150 		0.925 0.080 19 54191536 missense variant C/T snv
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994150
rs113994150 		0.925 0.080 19 54191536 missense variant C/T snv
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		Nervous System Diseases 0.700 0
dbSNP: rs886041058
rs886041058 		1.000 19 54188278 frameshift variant GGGGCCACAGGTGAACAGGG/- delins
CUI: C4310673
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 		0.700 0