Source: CLINVAR

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: rs137853310
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs137853310
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0