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: rs1114167429
rs1114167429 		1.000 2 28776964 missense variant G/C snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037952
rs886037952 		0.925 0.240 2 28776944 missense variant C/G snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037954
rs886037954 		1.000 2 28783934 missense variant A/C;T snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037955
rs886037955 		1.000 2 28793938 missense variant G/A snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037953
rs886037953 		1.000 2 28793872 missense variant G/T snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.700 1.000 5 2016 2019
dbSNP: rs4372836
rs4372836 		2 28751017 non coding transcript exon variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2015 2019
dbSNP: rs10182825
rs10182825 		1.000 2 28788221 intron variant G/A snv 9.0E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs10182825
rs10182825 		1.000 2 28788221 intron variant G/A snv 9.0E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs10182825
rs10182825 		1.000 2 28788221 intron variant G/A snv 9.0E-02
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs10182825
rs10182825 		1.000 2 28788221 intron variant G/A snv 9.0E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs10182825
rs10182825 		1.000 2 28788221 intron variant G/A snv 9.0E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs6547872
rs6547872 		2 28755208 intron variant C/T snv 0.61
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7579277
rs7579277 		2 28773429 intron variant G/A snv 0.61
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2228530
rs2228530 		1.000 2 28778825 missense variant A/C;G snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2018 2018
dbSNP: rs886037952
rs886037952 		0.925 0.240 2 28776944 missense variant C/G snv
CUI: C1834120
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017