COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
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: rs9455026
rs9455026
6 70291666 intron variant C/T snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs9455027
rs9455027
6 70293741 intron variant A/T snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs9455031
rs9455031
6 70296672 intron variant T/C snv 0.17
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs189754995
rs189754995
1.000 6 70255375 stop gained G/A;T snv
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV
0.700 0