COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
Disease: STICKLER SYNDROME, TYPE IV ×
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: rs121912931
rs121912931 		0.882 0.280 6 70281033 stop gained G/A snv
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.700 0
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