rs572104436, MYO18B

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.
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
7 1.000 0.080 22 26026634 missense variant A/T snv 8.0E-06 0.010 1.000 1 2019 2019