rs1569172839, MYO18B

N. diseases: 2
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.
Klippel-Feil Syndrome
CUI: C0022738
Disease: Klippel-Feil Syndrome
5 0.925 0.080 22 25903716 frameshift variant -/G delins 0.700 0
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
CUI: C4225285
Disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
5 0.925 0.080 22 25903716 frameshift variant -/G delins 0.700 0