NOTCH4, notch receptor 4, 4855

N. diseases: 24; N. variants: 38
Source: GWASDB ×
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: rs2071286
rs2071286
0.752 0.280 6 32212119 intron variant C/T snv 0.17
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs443198
rs443198
0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2012 2012