Source: UNIPROT

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: rs587779471
rs587779471
COL3A1
1.000 0.160 2 189004090 missense variant G/A;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779473
rs587779473
COL3A1
1.000 0.160 2 189008099 missense variant G/A;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779476
rs587779476
COL3A1 ; MIR3606
1.000 0.160 2 188995056 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779483
rs587779483
COL3A1
1.000 0.160 2 189004046 missense variant G/T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779486
rs587779486
COL3A1
1.000 0.160 2 189002991 missense variant G/T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779489
rs587779489
COL3A1 ; MIR3606
1.000 0.160 2 188994577 missense variant G/A;C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779493
rs587779493
COL3A1
1.000 0.160 2 188998675 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779504
rs587779504
COL3A1
1.000 0.160 2 189008960 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779505
rs587779505
COL3A1
1.000 0.160 2 189004028 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779517
rs587779517
COL3A1
1.000 0.160 2 189004258 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779521
rs587779521
COL3A1
1.000 0.160 2 189008134 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779522
rs587779522
COL3A1
1.000 0.160 2 188997736 missense variant G/C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779523
rs587779523
COL3A1 ; MIR3606
1.000 0.160 2 188995091 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779533
rs587779533
COL3A1
1.000 0.160 2 188989433 missense variant G/C;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779548
rs587779548
COL3A1
1.000 0.160 2 189005413 missense variant G/A;C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779552
rs587779552
COL3A1
1.000 0.160 2 189005450 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779553
rs587779553
COL3A1
1.000 0.160 2 189008107 missense variant G/A;C;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779555
rs587779555
COL3A1
1.000 0.160 2 188989442 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779559
rs587779559
COL3A1
1.000 0.160 2 189004348 missense variant G/A;C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779566
rs587779566
COL3A1
1.000 0.160 2 189004126 missense variant G/C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779571
rs587779571
COL3A1
1.000 0.160 2 189004330 missense variant G/T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779574
rs587779574
COL3A1
1.000 0.160 2 189008933 missense variant G/C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779576
rs587779576
COL3A1
1.000 0.160 2 189005405 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779578
rs587779578
COL3A1
1.000 0.160 2 189008117 missense variant G/A;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017
dbSNP: rs587779584
rs587779584
COL3A1 ; MIR3606
1.000 0.160 2 188996134 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 26 1989 2017