ITGA3, integrin subunit alpha 3, 3675

N. diseases: 111; N. variants: 11
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: rs140781106
rs140781106 		1.000 17 50076642 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.800 0
dbSNP: rs745505565
rs745505565 		1.000 17 50071380 missense variant G/A snv 8.0E-06
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.700 1.000 2 2012 2016
dbSNP: rs4793636
rs4793636 		1.000 0.080 17 50062136 intron variant G/A snv 0.18
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs540704248
rs540704248 		1.000 17 50077024 missense variant C/G;T snv 8.2E-06
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.700 1.000 1 2016 2016
dbSNP: rs797045048
rs797045048 		1.000 17 50077122 splice donor variant G/A snv
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.700 1.000 1 2016 2016
dbSNP: rs1567701091
rs1567701091 		1.000 17 50075598 splice acceptor variant G/A snv
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.700 0
dbSNP: rs797044989
rs797044989 		1.000 17 50074452 missense variant C/T snv 1.2E-05
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.700 0
dbSNP: rs2269772
rs2269772 		0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2011 2012
dbSNP: rs2269772
rs2269772 		0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2011 2012
dbSNP: rs2269772
rs2269772 		0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2011 2012
dbSNP: rs16948627
rs16948627 		0.882 0.040 17 50063432 intron variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16948627
rs16948627 		0.882 0.040 17 50063432 intron variant C/A;T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16948627
rs16948627 		0.882 0.040 17 50063432 intron variant C/A;T snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16948627
rs16948627 		0.882 0.040 17 50063432 intron variant C/A;T snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2230392
rs2230392 		0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2230392
rs2230392 		0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2230392
rs2230392 		0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2230392
rs2230392 		0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2269772
rs2269772 		0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2269772
rs2269772 		0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2269772
rs2269772 		0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2285524
rs2285524 		0.882 0.040 17 50073989 synonymous variant T/C snv 0.21 0.24
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2285524
rs2285524 		0.882 0.040 17 50073989 synonymous variant T/C snv 0.21 0.24
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2285524
rs2285524 		0.882 0.040 17 50073989 synonymous variant T/C snv 0.21 0.24
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2285524
rs2285524 		0.882 0.040 17 50073989 synonymous variant T/C snv 0.21 0.24
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2014 2014