Spondyloepimetaphyseal Dysplasia
Other
128 variants
11 genes
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Associated Genes (11)
NANS
COL2A1
AIFM1
ACAN
MMP13
PAPSS2
DDRGK1
RPL13
ERI1
SIK3
UFSP2
Associated Variants (128)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS200709126
NANS
—
—
strong
RS2136514291
COL2A1
—
—
strong
RS2136575653
COL2A1
—
—
strong
RS2124656997
AIFM1
—
—
strong
RS1356219990
ACAN
—
—
strong
RS2117967310
NANS
—
—
strong
RS781966264
MMP13
—
—
strong
RS981095457
PAPSS2
—
—
strong
RS2131732455
PAPSS2
—
—
strong
RS1011589357
DDRGK1
—
—
strong
RS2492825486
PAPSS2
—
—
strong
RS2492847060
PAPSS2
—
—
strong
RS2523131307
AIFM1
—
—
strong
RS2136564199
COL2A1
—
—
strong
RS922323466
NANS
—
—
strong
RS2540152190
COL2A1
—
—
strong
RS1438029595
COL2A1
—
—
strong
RS111631219
RPL13
—
—
strong
RS1939319350
COL2A1
—
—
strong
RS2486219940
ERI1
—
—
strong
RS1433280953
ERI1
—
—
strong
RS982911729
ERI1
—
—
strong
RS2486175152
ERI1
—
—
strong
RS1209588647
PAPSS2
—
—
strong
RS2540619128
SIK3
—
—
strong
RS185351326
PAPSS2
—
—
strong
RS369033671
NANS
—
—
strong
RS934768094
RPL13
—
—
strong
RS2058757423
RPL13
—
—
strong
RS544003228
MMP13
—
—
strong
RS372513971
MMP13
—
—
strong
RS372000933
MMP13
—
—
strong
RS781936267
MMP13
—
—
strong
RS2095515802
UFSP2
—
—
strong
RS201203612
PAPSS2
—
—
strong
RS781186692
AIFM1
—
—
strong
RS541008862
PAPSS2
—
—
strong
RS1853674954
PAPSS2
—
—
strong
RS781949882
MMP13
—
—
strong
RS1301955422
MMP13
—
—
strong
RS17173698
PAPSS2
—
—
strong
RS367724066
ACAN
—
—
strong
RS2136555177
COL2A1
—
—
strong
RS760686756
PAPSS2
—
—
strong
RS138386772
PAPSS2
—
—
strong
RS2141581633
ACAN
—
—
strong
RS151328869
PAPSS2
—
—
strong
RS2153279702
UFSP2
—
—
strong
RS375322679
ACAN
—
—
strong
RS2136522964
COL2A1
—
—
strong
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