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: rs1554104853
rs1554104853
1.000 0.080 5 148104957 frameshift variant A/- delins
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0