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: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0