COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: rs66773001
rs66773001 		0.882 0.120 7 94410251 missense variant G/A;T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 8 1991 2016
dbSNP: rs1562905246
rs1562905246 		0.925 0.120 7 94420595 missense variant G/A snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 7 1993 2014
dbSNP: rs67525025
rs67525025 		0.882 0.120 7 94408798 missense variant G/A;T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 6 1993 2009
dbSNP: rs72658177
rs72658177 		0.882 0.120 7 94420613 missense variant G/T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 6 1993 2009
dbSNP: rs72658194
rs72658194 		0.925 0.120 7 94423074 missense variant G/A snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 6 1993 2009
dbSNP: rs1554395471
rs1554395471 		0.882 0.120 7 94405197 splice acceptor variant A/C;G snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1984 2017
dbSNP: rs1554396271
rs1554396271 		0.925 0.120 7 94410899 missense variant G/A;T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1993 2009
dbSNP: rs1554396680
rs1554396680 		0.925 0.120 7 94413093 missense variant G/C snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1993 2009
dbSNP: rs1562900513
rs1562900513 		0.925 0.120 7 94408780 missense variant G/T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1993 2009
dbSNP: rs1562907190
rs1562907190 		0.925 0.120 7 94425858 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 5 1984 2017
dbSNP: rs72656375
rs72656375 		0.925 0.120 7 94407845 splice acceptor variant A/G snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1984 2017
dbSNP: rs72659325
rs72659325 		0.882 0.120 7 94427008 missense variant G/C;T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1993 2009
dbSNP: rs1562900123
rs1562900123 		0.925 0.120 7 94407890 splice donor variant CAGTAAGT/- del
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0