NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
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: rs11574906
rs11574906
1.000 0.040 9 136501661 intron variant T/A snv 8.5E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3124998
rs3124998
0.827 0.120 9 136494980 3 prime UTR variant C/T snv 3.0E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016