rs1561695740, SPINK5

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.
Ichthyosis linearis circumflexa
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
20 1.000 0.080 5 148111891 splice donor variant TTCTTGTGAGTGGGCGGCAGCCACTG/CT delins 0.700 0