NPAS2, neuronal PAS domain protein 2, 4862

N. diseases: 82; N. variants: 19
Disease: Breast Carcinoma ×
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: rs2305160
rs2305160 		0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2012
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11541353
rs11541353 		0.851 0.120 2 100977729 missense variant C/T snv 0.14 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17024869
rs17024869 		0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17024926
rs17024926 		0.851 0.120 2 100889540 intron variant T/C snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3739008
rs3739008 		0.925 0.080 2 100996106 3 prime UTR variant C/T snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs7581886
rs7581886 		0.708 0.320 2 100964784 intron variant C/T snv 0.92
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520 		0.689 0.320 2 100961475 intron variant G/A snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017