Skeletal Dysplasia
Other
52 variants
20 genes
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Associated Genes (20)
CSGALNACT1
TTN
FGFR3
PAPSS2
FLNB
LMBR1
COL9A3
COL1A2
GALNS
RMRP
MBTPS2
MACF1
PKDCC
COPB1
HOXD13
FAM111A
SYNE1
TRPV4
LRP5
COL11A1
Associated Variants (52)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS2054868908
CSGALNACT1
—
—
strong
RS185913848
TTN
—
—
strong
RS886043613
FGFR3
—
—
strong
RS138943074
PAPSS2
—
—
strong
RS138141099
FLNB
—
—
strong
RS139646169
LMBR1
—
—
strong
RS758064613
COL9A3
—
—
strong
RS1057518967
COL1A2
—
—
strong
RS569725936
GALNS
—
—
strong
RS1554651373
RMRP
—
—
strong
RS149889191
MBTPS2
—
—
strong
RS746391651
CSGALNACT1
—
—
strong
RS2077140472
CSGALNACT1
—
—
strong
RS189951108
TTN
—
—
strong
RS201151136
CSGALNACT1
—
—
strong
RS752117651
MACF1
—
—
strong
RS534596867
PKDCC
—
—
strong
RS144295336
CSGALNACT1
—
—
strong
RS2493876974
COPB1
—
—
strong
RS1034099077
CSGALNACT1
—
—
strong
RS2538803620
CSGALNACT1
—
—
strong
RS2546818546
FGFR3
—
—
strong
RS748398268
HOXD13
—
—
strong
RS376721381
FAM111A
—
—
strong
RS367744351
SYNE1
—
—
strong
RS397514473
TRPV4
—
—
strong
RS121912633
TRPV4
—
—
strong
RS77975504
TRPV4
—
—
strong
RS121912634
TRPV4
—
—
strong
RS121912636
TRPV4
—
—
strong
RS121912637
TRPV4
—
—
strong
RS121908670
LRP5
—
—
strong
RS267607147
TRPV4
—
—
strong
RS267607148
TRPV4
—
—
strong
RS267607149
TRPV4
—
—
strong
RS387906324
TRPV4
—
—
strong
RS267607150
TRPV4
—
—
strong
RS387906902
TRPV4
—
—
strong
RS121912632
TRPV4
—
—
strong
RS387906904
TRPV4
—
—
strong
RS397514474
TRPV4
—
—
strong
RS387906906
TRPV4
—
—
strong
RS387906907
TRPV4
—
—
strong
RS373514079
TTN
—
—
strong
RS398123438
GALNS
—
—
strong
RS56230601
COL11A1
—
—
strong
RS515726153
TRPV4
—
—
strong
RS515726154
TRPV4
—
—
strong
RS515726162
TRPV4
—
—
strong
RS515726172
TRPV4
—
—
strong
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