COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 ×
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: rs1564455577
rs1564455577 		1.000 9 134782721 splice donor variant G/T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 1 2013 2013
dbSNP: rs1564478485
rs1564478485 		1.000 9 134815934 splice acceptor variant G/T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 1 2013 2013
dbSNP: rs1564482508
rs1564482508 		1.000 9 134820224 splice donor variant G/C snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 1 2013 2013
dbSNP: rs777625241
rs777625241 		1.000 9 134700037 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 1 2016 2016
dbSNP: rs1131691820
rs1131691820 		1.000 9 134817028 frameshift variant -/T delins
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1564446117
rs1564446117 		1.000 9 134767030 stop gained C/T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1564453833
rs1564453833 		1.000 9 134780101 coding sequence variant G/- delins
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1564457102
rs1564457102 		1.000 9 134785066 frameshift variant C/- delins
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1564471440
rs1564471440 		1.000 9 134806238 frameshift variant -/TCCAGGGAGACCTGGGC delins
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1564475090
rs1564475090 		1.000 9 134811590 frameshift variant G/- delins
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1564487306
rs1564487306 		1.000 9 134824808 frameshift variant C/- delins
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs80338764
rs80338764 		0.925 9 134824817 missense variant G/C snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0