Congenital
Other
435 variants
14 genes
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Associated Genes (14)
SMARCC1
CYP21A2
CYP21A2;LOC106780800;TNXB
HRAS
TRHR
PHOX2B
GPR143
KIF21A
PAX6
PHOX2A
TUBB3
NKX2-5
CYP17A1
FRMD7
Associated Variants (435)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS2549178858
SMARCC1
—
—
exploratory
RS2549178064
SMARCC1
—
—
exploratory
RS1582299448
CYP21A2
—
—
strong
RS7769409
CYP21A2;LOC106780800;TNXB
—
—
strong
RS9378251
CYP21A2
—
—
strong
RS6467
CYP21A2
—
—
strong
RS201552310
CYP21A2
—
—
strong
RS397509367
CYP21A2
—
—
strong
RS6445
CYP21A2
—
—
strong
RS387906510
CYP21A2
—
—
strong
RS1474566961
CYP21A2
—
—
strong
RS7755898
CYP21A2
—
—
strong
RS151344503
CYP21A2
—
—
strong
RS12530380
CYP21A2
—
—
strong
RS151344504
CYP21A2
—
—
strong
RS6471
CYP21A2
—
—
strong
RS1582302625
CYP21A2
—
—
strong
RS1378695952
CYP21A2
—
—
strong
RS72552757
CYP21A2
—
—
strong
RS9378252
CYP21A2
—
—
strong
RS104894229
HRAS
—
—
strong
RS121917756
HRAS
—
—
strong
RS121917757
HRAS
—
—
strong
RS1586182912
TRHR
—
—
strong
RS2552096841
PHOX2B
—
—
strong
RS137852298
GPR143
—
—
strong
RS121912585
KIF21A
—
—
strong
RS121912586
KIF21A
—
—
strong
RS267607200
KIF21A
—
—
strong
RS121907915
PAX6
—
—
strong
RS1590729541
PHOX2A
—
—
strong
RS1178102382
PHOX2A
—
—
strong
RS267607162
TUBB3
—
—
strong
RS267607163
TUBB3
—
—
strong
RS267607164
TUBB3
—
—
strong
RS267607165
TUBB3
—
—
strong
RS28936670
NKX2-5
—
—
strong
RS137852296
GPR143
—
—
strong
RS104894149
CYP17A1
—
—
strong
RS2518642062
GPR143
—
—
strong
RS2146705597
GPR143
—
—
strong
RS137852207
FRMD7
—
—
strong
RS137852208
FRMD7
—
—
strong
RS1928435502
FRMD7
—
—
strong
RS137852209
FRMD7
—
—
strong
RS137852210
FRMD7
—
—
strong
RS1929191668
FRMD7
—
—
strong
RS137852211
FRMD7
—
—
strong
RS137852212
FRMD7
—
—
strong
RS6475
CYP21A2
—
—
strong
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