From: Identification of novel genetic variations affecting osteoarthritis patients
Gene | Chromosome position | AA change | Nucleotide change | Protein ID | dbSNP | ExAC frequency |
---|---|---|---|---|---|---|
HSPG2 | 1,22154535,G,A | p.Arg4174Cys | c.4391C > T | ENSP00000363827 | rs199899258 | 0.00005066 |
SUSD5 | 3,33194727,G,A | p.Thr466Met | c.629C > T | ENSP00000308727 | rs377664152 | 0.00009122 |
ITGA8 | 10,15628601,G,A | p.Ala785Val | c.1063C > T | ENSP00000367316 | rs371802080 | 0.0000248 |
PXN | 12,120660505,T,C | p.Tyr181Cys | c.605A > G | ENSP00000267257 | rs371118243 | 0.0001199 |
COL2A1 | 12,48371204,G,A | p.Arg1058Cys | c.1487C > T | ENSP00000369889 | rs148350640 | 0.00002493 |
COL6A6 | 3,130293232,T,C | p.Ile1137Thr | c.2263T > C | ENSP00000351310 | rs200274210 | 0.006855 |
FIGNL1 | 7,50513244,A,G | p.Met581Thr | c.674T > C | ENSP00000349356 | rs200453649 | 0.000173 |
USP36 | 17,76803235,T,C | p.Arg631Gly | c.1123A > G | ENSP00000441214 | rs112843316 | 0.000082 |
SPN | 16,29676061,C,T | p.Arg338Cys | c.400C > T | ENSP00000353238 | rs200681097 | 0.000485 |
TNRC6B | 22,40661502,G,T | p.Gly423Val | c.1833G > T | ENSP00000401946 | rs201057205 | 0.0003241 |
SELP | 1,169586366,G,T | p.Asn127Lys | c.381G > T | ENSP00000263686 | NA | NA |
NLRP6 | 11,281256,G,T | p.Ala508Ser | c.892G > T | ENSP00000309767 | rs373174851 | 0.000101 |
GAS6 | 13,114535300,G,A | p.Pro415Leu | c.721C > T | ENSP00000349962 | NA | 0.0000353 |