ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Supravalvular aortic stenosis ×
Source: ALL
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: rs137854453
rs137854453 		1.000 0.040 7 74060184 stop gained C/G;T snv 4.0E-06
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs137854454
rs137854454 		1.000 0.040 7 74043901 stop gained C/A;G snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs137854455
rs137854455 		1.000 0.040 7 74045278 stop gained A/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1400530335
rs1400530335 		1.000 0.040 7 74048146 stop gained T/A;C snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554666513
rs1554666513 		1.000 0.040 7 74037711 frameshift variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554669297
rs1554669297 		1.000 0.040 7 74042675 frameshift variant GC/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554669800
rs1554669800 		1.000 0.040 7 74043124 frameshift variant T/- del
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554672587
rs1554672587 		1.000 0.040 7 74046758 stop gained A/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554676454
rs1554676454 		1.000 0.040 7 74051978 missense variant A/G snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554686162
rs1554686162 		1.000 0.040 7 74063229 splice region variant G/A;C snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1563826213
rs1563826213 		1.000 0.040 7 74053251 frameshift variant C/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1563836689
rs1563836689 		1.000 0.040 7 74056347 frameshift variant C/- del
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503022
rs727503022 		1.000 0.040 7 74028228 frameshift variant -/C delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503023
rs727503023 		1.000 0.040 7 74035411 frameshift variant C/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503024
rs727503024 		1.000 0.040 7 74043883 frameshift variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503026
rs727503026 		1.000 0.040 7 74048195 frameshift variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503028
rs727503028 		1.000 0.040 7 74051808 frameshift variant -/G delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503029
rs727503029 		1.000 0.040 7 74054715 splice acceptor variant G/A;T snv 4.0E-06
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503031
rs727503031 		1.000 0.040 7 74056270 splice region variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503033
rs727503033 		1.000 0.040 7 74061138 stop gained T/A;C snv 4.0E-06
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503034
rs727503034 		1.000 0.040 7 74063224 stop gained G/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503035
rs727503035 		1.000 0.040 7 74063370 splice donor variant G/A snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503782
rs727503782 		1.000 0.040 7 74060486 frameshift variant C/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727504419
rs727504419 		1.000 0.040 7 74051841 splice donor variant T/C snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs727504433
rs727504433 		1.000 0.040 7 74056324 frameshift variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		Cardiovascular Diseases 0.700 0