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: rs1557179325
rs1557179325
FLNA
0.925 0.080 X 154366562 splice region variant C/T snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs1557179325
rs1557179325
FLNA
0.925 0.080 X 154366562 splice region variant C/T snv
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		0.700 0
dbSNP: rs1557179325
rs1557179325
FLNA
0.925 0.080 X 154366562 splice region variant C/T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557179325
rs1557179325
FLNA
0.925 0.080 X 154366562 splice region variant C/T snv
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0