rs137853312, FLNA

N. diseases: 7
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 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
3 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.810 1.000 3 2003 2016
Frontometaphyseal dysplasia
CUI: C0265293
Disease: Frontometaphyseal dysplasia
16 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.700 1.000 3 2005 2006
Melnick-Needles Syndrome
CUI: C0025237
Disease: Melnick-Needles Syndrome
19 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.700 1.000 3 2005 2006
OTOPALATODIGITAL SYNDROME, TYPE II
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
21 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.700 1.000 3 2005 2006
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
38 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.700 1.000 3 2005 2006
Fibromuscular Dysplasia
CUI: C0016052
Disease: Fibromuscular Dysplasia
3 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.010 1.000 1 2006 2006
Muscular Dystrophy, Facioscapulohumeral
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
3 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.010 1.000 1 2006 2006