Source: CLINVAR

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: rs121912923
rs121912923
COL3A1
0.882 0.160 2 188996479 missense variant G/A;C;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 0 1989 2017
dbSNP: rs587779692
rs587779692
COL3A1 ; MIR3606
0.925 0.240 2 188994297 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 6 1993 2015
dbSNP: rs1559056438
rs1559056438
COL3A1 ; MIR3606
0.925 0.200 2 188994727 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 0
dbSNP: rs587779595
rs587779595
COL3A1
0.925 0.200 2 189005351 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 0
dbSNP: rs587779715
rs587779715
COL3A1
0.925 0.200 2 189008089 missense variant G/C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 0
dbSNP: rs863224860
rs863224860
COL3A1
0.925 0.160 2 189010732 stop gained C/T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 0
dbSNP: rs869312034
rs869312034
COL3A1
0.925 0.160 2 189006260 splice donor variant G/A;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 0
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 8 1989 2017
dbSNP: rs587779606
rs587779606
COL3A1
1.000 0.160 2 188999542 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 8 1993 2015
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 7 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 7 1989 2017
dbSNP: rs587779691
rs587779691
COL3A1
1.000 0.160 2 188997166 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 7 1989 2015
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 7 1989 2017
dbSNP: rs1553507614
rs1553507614
COL3A1
1.000 0.160 2 188992185 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 6 1993 2015
dbSNP: rs1553509391
rs1553509391
COL3A1
1.000 0.160 2 189006206 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 6 1992 2015
dbSNP: rs1559056621
rs1559056621
COL3A1 ; MIR3606
1.000 0.160 2 188995092 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 6 1993 2015
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 6 1989 2017
dbSNP: rs587779438
rs587779438
COL3A1
1.000 0.160 2 189004257 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 6 1993 2015
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
1.000 0.160 2 188994235 missense variant G/C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 5 1993 2015
dbSNP: rs121912918
rs121912918
COL3A1
1.000 0.160 2 189008135 missense variant G/A;T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.800 1.000 5 1989 2017
dbSNP: rs1553507274
rs1553507274
COL3A1
1.000 0.160 2 188988626 missense variant G/T snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 5 1993 2015
dbSNP: rs1553508238
rs1553508238
COL3A1
1.000 0.160 2 188996443 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 5 1993 2015
dbSNP: rs1553509430
rs1553509430
COL3A1
1.000 0.160 2 189006445 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 5 1993 2015
dbSNP: rs1553509744
rs1553509744
COL3A1
1.000 0.160 2 189008979 missense variant G/A snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 5 1993 2015
dbSNP: rs1559061706
rs1559061706
COL3A1
1.000 0.160 2 189006363 missense variant G/C snv
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 1.000 5 1993 2015