Disease: Pulmonary Stenosis ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918459
rs121918459 		0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 1.000 4 2001 2012
dbSNP: rs121918454
rs121918454 		0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918455
rs121918455 		0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918458
rs121918458 		0.807 0.320 12 112489080 missense variant T/A;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918460
rs121918460 		0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918462
rs121918462 		0.742 0.320 12 112450398 missense variant C/T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918463
rs121918463 		0.851 0.240 12 112477651 missense variant T/A;C;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918466
rs121918466 		0.752 0.280 12 112450416 missense variant A/G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918467
rs121918467 		0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs397507501
rs397507501 		0.882 0.160 12 112446385 missense variant A/G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs397507514
rs397507514 		0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs397507517
rs397507517 		0.827 0.160 12 112450497 missense variant A/C snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs397507545
rs397507545 		0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0