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: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0