CD27, CD27 molecule, 939

N. diseases: 154; N. variants: 6
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: rs397514667
rs397514667 		1.000 12 6445445 missense variant G/A snv
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2 		0.810 1.000 2 2012 2013
dbSNP: rs398122933
rs398122933 		1.000 12 6445119 stop gained G/A snv
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2 		0.700 0
dbSNP: rs748418658
rs748418658 		1.000 12 6445525 frameshift variant -/A delins 1.6E-05 1.4E-05
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2 		0.700 0
dbSNP: rs779092602
rs779092602 		1.000 12 6450897 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2 		0.700 0
dbSNP: rs2267966
rs2267966 		0.925 0.080 12 6448026 non coding transcript exon variant A/T snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2267966
rs2267966 		0.925 0.080 12 6448026 non coding transcript exon variant A/T snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3136550
rs3136550 		0.925 0.080 12 6443118 intron variant C/T snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3136550
rs3136550 		0.925 0.080 12 6443118 intron variant C/T snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012