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: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.810 1.000 0 2003 2016
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 1.000 3 2005 2006
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 1.000 3 2005 2006
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 3 2005 2006
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 3 2005 2006