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: rs751430853
rs751430853
1.000 0.080 7 101157375 splice acceptor variant A/G snv 2.2E-05 7.0E-06
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0