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: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.700 1.000 1 2013 2013
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.700 0