Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 1.000 1 2006 2006
dbSNP: rs137853316
rs137853316
FLNA
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 1.000 1 2006 2006