COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 143; N. variants: 22
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: rs786205870
rs786205870
1.000 2 237344358 missense variant C/T snp 8.0E-06 6.4E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.800 1 2015 2015
dbSNP: rs182976977
rs182976977
1.000 2 237333533 missense variant G/A,C snp 1.2E-05; 8.2E-04 5.4E-04
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs541928674
rs541928674
1.000 2 237344516 missense variant C/T snp 2.4E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs552651651
rs552651651
1.000 2 237334727 missense variant C/T snp 1.1E-03 1.6E-04
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs767517186
rs767517186
1.000 2 237334890 splice acceptor variant C/G snp 1.6E-05
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 1 2015 2015
dbSNP: rs764193290
rs764193290
1.000 2 237342163 splice acceptor variant CT/C in-del 4.0E-06
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
0.700 0