CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
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: rs121909589
rs121909589 		1.000 1 207767057 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 1.000 6 2003 2010
dbSNP: rs121909591
rs121909591 		1.000 1 207757020 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 1.000 6 2003 2010
dbSNP: rs11118555
rs11118555 		1 207767508 non coding transcript exon variant T/A snv 9.3E-02
CUI: C0018810
Disease: heart rate
heart rate 		0.800 1.000 1 2013 2013
dbSNP: rs769742294
rs769742294 		1.000 0.120 1 207757204 splice donor variant T/G snv 5.2E-05 4.2E-05
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.700 1.000 11 2006 2017
dbSNP: rs2724384
rs2724384 		1.000 0.080 1 207756858 intron variant G/A snv 0.80
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs35118522
rs35118522 		1 207774716 intron variant T/C snv 9.4E-02
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2018 2018
dbSNP: rs41317993
rs41317993 		1 207788387 intron variant G/A snv 9.2E-02
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs1057516191
rs1057516191 		1.000 1 207761314 frameshift variant TT/- delins
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs121909590
rs121909590 		1.000 1 207757091 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1271761432
rs1271761432 		1.000 1 207767031 missense variant C/G snv
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1553251787
rs1553251787 		1.000 1 207767024 stop gained C/T snv
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs750324925
rs750324925 		1.000 1 207761377 missense variant C/T snv 4.0E-06
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs759136081
rs759136081 		1.000 1 207761266 missense variant C/T snv 4.0E-06
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs886039868
rs886039868 		1.000 1 207767113 frameshift variant G/- delins
CUI: C2752040
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1027208016
rs1027208016 		1.000 0.120 1 207790269 missense variant G/A snv
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1181467668
rs1181467668 		1.000 0.120 1 207793538 missense variant G/A snv 4.0E-06
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1230304944
rs1230304944 		1.000 0.120 1 207785071 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2466571
rs2466571 		0.925 0.120 1 207766701 intron variant G/T snv 0.46
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2466571
rs2466571 		0.925 0.120 1 207766701 intron variant G/T snv 0.46
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2466571
rs2466571 		0.925 0.120 1 207766701 intron variant G/T snv 0.46
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2724385
rs2724385 		1.000 0.080 1 207758183 intron variant T/A snv 0.46
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs35366573
rs35366573 		0.882 0.120 1 207785101 missense variant C/T snv 1.5E-02 1.5E-02
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs35366573
rs35366573 		0.882 0.120 1 207785101 missense variant C/T snv 1.5E-02 1.5E-02
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs35366573
rs35366573 		0.882 0.120 1 207785101 missense variant C/T snv 1.5E-02 1.5E-02
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs780774047
rs780774047 		1.000 0.120 1 207767136 missense variant A/G snv 4.0E-06
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007