rs1569551502, 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
CUI: C0265293
Disease: Frontometaphyseal dysplasia
16 0.851 0.120 X 154353958 frameshift variant G/- del 0.700 0
Melnick-Needles Syndrome
CUI: C0025237
Disease: Melnick-Needles Syndrome
19 0.851 0.120 X 154353958 frameshift variant G/- del 0.700 0
OTOPALATODIGITAL SYNDROME, TYPE II
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
21 0.851 0.120 X 154353958 frameshift variant G/- del 0.700 0
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
38 0.851 0.120 X 154353958 frameshift variant G/- del 0.700 0