rs397516792, MAP2K1

N. diseases: 6
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
melanoma
CUI: C0025202
Disease: melanoma
129 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.720 1.000 4 2009 2015
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
70 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 6 2007 2017
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
153 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016