Source: ALL

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: rs1554680190
rs1554680190
ELN
1.000 7 74056714 splice donor variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 1994 2017
dbSNP: rs1554680190
rs1554680190
ELN
1.000 7 74056714 splice donor variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1994 2017
dbSNP: rs397516433
rs397516433
ELN
1.000 0.040 7 74051747 splice region variant C/G;T snv 1.2E-05
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 3 1997 2007
dbSNP: rs794729201
rs794729201
ELN
1.000 0.080 7 74068685 frameshift variant C/- delins
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.700 1.000 3 1997 2011
dbSNP: rs137854452
rs137854452
ELN
1.000 0.040 7 74056680 stop gained C/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 2 1997 2000
dbSNP: rs727503030
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 2 1997 2000
dbSNP: rs1554672602
rs1554672602
ELN
1.000 0.040 7 74046768 splice donor variant GT/AG mnv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 1 2000 2000
dbSNP: rs1563793627
rs1563793627
ELN
1.000 0.040 7 74045182 splice acceptor variant CCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGG/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 1 2000 2000
dbSNP: rs17855988
rs17855988
ELN ; ELN-AS1
7 74060495 missense variant G/A;C snv 4.0E-06; 7.0E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs34852121
rs34852121
ELN ; ELN-AS1
7 74063653 missense variant G/A snv 7.2E-05 4.2E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34852121
rs34852121
ELN ; ELN-AS1
7 74063653 missense variant G/A snv 7.2E-05 4.2E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3823878
rs3823878
ELN
7 74028915 intron variant G/A snv 0.13
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		0.700 1.000 1 2018 2018
dbSNP: rs727503027
rs727503027
ELN
1.000 0.040 7 74051748 splice acceptor variant A/G snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 1 1997 1997
dbSNP: rs727503783
rs727503783
ELN ; ELN-AS1
1.000 0.040 7 74060495 frameshift variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 1 1997 1997
dbSNP: rs863223518
rs863223518
ELN
1.000 0.040 7 74028189 start lost T/C snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 1.000 1 2012 2012
dbSNP: rs137854453
rs137854453
ELN ; ELN-AS1
1.000 0.040 7 74060184 stop gained C/G;T snv 4.0E-06
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs137854454
rs137854454
ELN
1.000 0.040 7 74043901 stop gained C/A;G snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs137854455
rs137854455
ELN
1.000 0.040 7 74045278 stop gained A/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1400530335
rs1400530335
ELN
1.000 0.040 7 74048146 stop gained T/A;C snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1554666513
rs1554666513
ELN
1.000 0.040 7 74037711 frameshift variant G/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1554669297
rs1554669297
ELN
1.000 0.040 7 74042675 frameshift variant GC/- delins
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1554669800
rs1554669800
ELN
1.000 0.040 7 74043124 frameshift variant T/- del
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1554672587
rs1554672587
ELN
1.000 0.040 7 74046758 stop gained A/T snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1554676454
rs1554676454
ELN
1.000 0.040 7 74051978 missense variant A/G snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0
dbSNP: rs1554686162
rs1554686162
ELN ; ELN-AS1
1.000 0.040 7 74063229 splice region variant G/A;C snv
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.700 0