rs200502077, SGCG

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.
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
24 1.000 0.200 13 23203890 splice donor variant G/C snv 1.6E-05 4.2E-05 0.700 1.000 1 2017 2017