COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ×
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: rs1554395471
rs1554395471 		0.882 0.120 7 94405197 splice acceptor variant A/C;G snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs72656355
rs72656355 		0.882 0.200 7 94401565 splice acceptor variant A/G snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 7 1984 2017
dbSNP: rs72656363
rs72656363 		0.925 0.120 7 94404893 splice region variant AGTA/- delins
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 1 2013 2013
dbSNP: rs72659310
rs72659310 		0.882 0.120 7 94425664 splice donor variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 11 1984 2018
dbSNP: rs72658118
rs72658118 		0.882 0.120 7 94412095 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 10 1993 2016
dbSNP: rs72656387
rs72656387 		0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 8 1993 2017
dbSNP: rs72658185
rs72658185 		0.925 0.120 7 94421027 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 8 1993 2016
dbSNP: rs1554396361
rs1554396361 		0.925 0.120 7 94411128 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 6 1993 2011
dbSNP: rs1554396679
rs1554396679 		0.925 0.120 7 94413092 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 6 1993 2009
dbSNP: rs1554397975
rs1554397975 		0.925 0.120 7 94422994 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 6 1993 2016
dbSNP: rs1410254723
rs1410254723 		0.925 0.120 7 94404574 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 5 1993 2009
dbSNP: rs1554395431
rs1554395431 		0.925 0.120 7 94404893 splice donor variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 5 1984 2017
dbSNP: rs72658129
rs72658129 		0.925 0.120 7 94413708 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 5 1993 2009
dbSNP: rs72656370
rs72656370 		0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 4 2006 2015
dbSNP: rs1554395411
rs1554395411 		0.925 0.120 7 94404702 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs1554398251
rs1554398251 		0.925 0.120 7 94425162 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs1554398261
rs1554398261 		0.925 0.120 7 94425199 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs72656356
rs72656356 		0.925 0.120 7 94401620 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs72656390
rs72656390 		0.925 0.120 7 94409592 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs72658121
rs72658121 		0.925 0.120 7 94412657 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs72658198
rs72658198 		0.925 0.120 7 94423119 splice donor variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs72659319
rs72659319 		0.763 0.240 7 94426459 missense variant G/A;C snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 10 1993 2016
dbSNP: rs72656392
rs72656392 		0.882 0.120 7 94409732 missense variant G/A;C snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs906553840
rs906553840 		0.882 0.120 7 94409403 missense variant G/A;C snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0
dbSNP: rs67865220
rs67865220 		0.851 0.120 7 94409795 missense variant G/A;C;T snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 16 1993 2017