rs1057517706, ATP2C1

N. diseases: 1
Source: ALL
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.
Familial benign pemphigus
CUI: C0085106
Disease: Familial benign pemphigus
12 1.000 0.080 3 130997732 frameshift variant TTGT/- delins 0.700 0