rs137853316, FLNA

N. diseases: 4
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.
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
3 0.851 0.160 X 154354860 missense variant C/A snv 0.710 1.000 3 2003 2016
Otopalatodigital Spectrum Disorder
CUI: C2748918
Disease: Otopalatodigital Spectrum Disorder
2 0.851 0.160 X 154354860 missense variant C/A snv 0.700 0
Fibromuscular Dysplasia
CUI: C0016052
Disease: Fibromuscular Dysplasia
3 0.851 0.160 X 154354860 missense variant C/A snv 0.010 1.000 1 2006 2006
Muscular Dystrophy, Facioscapulohumeral
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
3 0.851 0.160 X 154354860 missense variant C/A snv 0.010 1.000 1 2006 2006