Source: ALL

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: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.800 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2007 2017
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2007 2017
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.700 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.700 1.000 1 2020 2020
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 1.000 1 2014 2014