NIN, ninein, 51199

N. diseases: 52; 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: rs146291102
rs146291102 		14 50741955 non coding transcript exon variant G/A snv 1.0E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs61755581
rs61755581 		1.000 0.080 14 50772463 synonymous variant G/A snv 1.5E-02 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs72681698
rs72681698 		14 50741023 intron variant T/C snv 4.5E-03
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs72681698
rs72681698 		14 50741023 intron variant T/C snv 4.5E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs8012283
rs8012283 		0.925 0.160 14 50767442 intron variant A/G snv 0.23
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs8012283
rs8012283 		0.925 0.160 14 50767442 intron variant A/G snv 0.23
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs387907308
rs387907308 		1.000 14 50744304 missense variant T/C;G snv 3.0E-04
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 0
dbSNP: rs747680111
rs747680111 		1.000 14 50758548 frameshift variant T/- del 7.0E-06
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 0
dbSNP: rs10145182
rs10145182 		0.925 0.080 14 50809291 intron variant T/A;C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10145182
rs10145182 		0.925 0.080 14 50809291 intron variant T/A;C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011