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: rs121912926
rs121912926
COL3A1
1.000 0.160 2 188988099 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: rs587779420
rs587779420
COL3A1
1.000 0.160 2 188988100 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: rs587779710
rs587779710
COL3A1
1.000 0.160 2 188988127 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: rs587779436
rs587779436
COL3A1
1.000 0.160 2 188988608 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: rs587779711
rs587779711
COL3A1
1.000 0.160 2 188988617 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: rs587779626
rs587779626
COL3A1
1.000 0.160 2 188988618 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: rs587779624
rs587779624
COL3A1
1.000 0.160 2 188989414 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: 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: 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: rs587779468
rs587779468
COL3A1
1.000 0.160 2 188990123 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: rs587779629
rs587779629
COL3A1
1.000 0.160 2 188990133 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: rs121912927
rs121912927
COL3A1
1.000 0.160 2 188990308 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: rs587779705
rs587779705
COL3A1
1.000 0.160 2 188990316 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: rs587779464
rs587779464
COL3A1
1.000 0.160 2 188990317 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: rs587779605
rs587779605
COL3A1
1.000 0.160 2 188990326 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: rs587779427
rs587779427
COL3A1
1.000 0.160 2 188991005 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: rs1553507557
rs1553507557
COL3A1
1.000 0.160 2 188991523 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: rs121912919
rs121912919
COL3A1
1.000 0.160 2 188991678 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: rs587779588
rs587779588
COL3A1
1.000 0.160 2 188992194 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: rs587779419
rs587779419
COL3A1
1.000 0.160 2 188992923 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: rs587779637
rs587779637
COL3A1 ; MIR3606
1.000 0.160 2 188994288 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: 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: 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: 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: 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