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: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2018 2018