NLRP1, NLR family pyrin domain containing 1, 22861

N. diseases: 200; N. variants: 13
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING ×
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: rs397514692
rs397514692 		1.000 17 5583728 missense variant A/G snv
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.800 1.000 2 2013 2016
dbSNP: rs1057519492
rs1057519492 		0.925 0.040 17 5583798 missense variant C/T snv
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.800 0
dbSNP: rs1057519493
rs1057519493 		1.000 17 5583761 missense variant G/A snv
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.800 0