Conservation scores and frequencies of SNPs in ATPase genes found in a Greek Family with atypical Hailey Hailey disease.

Gene = Gene name for variant, ExonicFunc = synonymous, non-synonymous, indel, etc., SNV = single nucleotide variant, Aminoacid Change = variant change in nucleotide and protein format, ESP5400_ALL = MAF in Exome Sequencing Project dataset (5,400 exomes) for all populations, 1000genomes_ALL = MAF in 1000Genomes February 2012 release, dbSNP135 = RS# from the dbSNP database, AVSIFT = SIFT Pathogenicity score: closer to 0 is more damaging, LJB_PhyloP = Pathogenicity score from dbNSFP: conserved > 0.95, not conserved < 0.95, LJB_SIFT = Pathogenicity score from dbNSFP: tolerated < 0.95, deleterious > 0.95, LJB_PolyPhen2 = Pathogenicity score from dbNSFP: probably damaging > 0.85, possibly damaging 0.85–0.15, benign < 0.15, NA = not available. Conservation scores and frequencies of SNPs in ATPase genes found in a Greek Family with atypical Hailey Hailey disease.