rs797045044, FLNA

N. diseases: 5
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 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 2 2016 2016
Melnick-Needles Syndrome
CUI: C0025237
Disease: Melnick-Needles Syndrome
19 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 2 2016 2016
OTOPALATODIGITAL SYNDROME, TYPE II
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
21 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 2 2016 2016
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
38 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 2 2016 2016
Ehlers-Danlos syndrome type 5
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
4 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 1 2016 2016