rs1556886127, SMC1A

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.
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
50 1.000 0.080 X 53383145 frameshift variant TGGCCTTCATGTTGGGGGCGGCAATAC/CTGCA delins 0.700 1.000 1 2007 2007