rs587777450, PIEZO2

N. diseases: 9
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.
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
3 0.790 0.320 18 10671729 missense variant C/T snv 0.800 1.000 1 2014 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 9 2007 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 9 2007 2017
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 1 2020 2020
Early severe fetal akinesia sequence
CUI: C3151520
Disease: Early severe fetal akinesia sequence
15 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 1 2020 2020
Oculomelic amyoplasia
CUI: C1862472
Disease: Oculomelic amyoplasia
11 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 1 2014 2014
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.790 0.320 18 10671729 missense variant C/T snv 0.010 1.000 1 2014 2014
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.790 0.320 18 10671729 missense variant C/T snv 0.010 1.000 1 2014 2014
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.790 0.320 18 10671729 missense variant C/T snv 0.010 1.000 1 2014 2014