COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE ×
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: rs869312907
rs869312907 		0.925 0.040 12 47995910 missense variant C/T snv
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.810 1.000 1 2015 2015
dbSNP: rs121912874
rs121912874 		0.716 0.400 12 47978329 missense variant G/A snv
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs121912893
rs121912893 		0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs760093841
rs760093841 		1.000 12 47975548 missense variant C/A;G;T snv 4.1E-06
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs794727261
rs794727261 		0.716 0.400 12 47999953 stop gained G/T snv
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs1480620991
rs1480620991 		0.925 0.040 12 47984580 missense variant C/G snv 4.0E-06
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.010 1.000 1 2015 2015