Pontocerebellar Hypoplasia
Other
74 variants
11 genes
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Associated Genes (11)
PRDM13
MINPP1
TBC1D23
SLC25A46
COASY
EXOSC9
ATAD3A
EXOSC8
PPIL1
CDC40
EXOSC1
Associated Variants (74)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS2114499988
PRDM13
—
—
strong
RS749643952
MINPP1
—
—
strong
RS1354130291
TBC1D23
—
—
strong
RS2148863572
TBC1D23
—
—
strong
RS2148861371
TBC1D23
—
—
strong
RS748636033
MINPP1
—
—
strong
RS1561602892
SLC25A46
—
—
strong
RS139742477
COASY
—
—
strong
RS781301648
EXOSC9
—
—
strong
RS1726969482
EXOSC9
—
—
strong
RS2149033494
EXOSC9
—
—
strong
RS2114500026
PRDM13
—
—
strong
RS2114500035
PRDM13
—
—
strong
RS1311614264
MINPP1
—
—
strong
RS2767471
ATAD3A
—
—
strong
RS2492635186
MINPP1
—
—
strong
RS566973741
COASY
—
—
strong
RS145108650
COASY
—
—
strong
RS751753677
COASY
—
—
strong
RS1464547304
ATAD3A
—
—
strong
RS2472195074
TBC1D23
—
—
strong
RS780466539
ATAD3A
—
—
strong
RS766623034
ATAD3A
—
—
strong
RS2492553794
MINPP1
—
—
strong
RS2524128308
ATAD3A
—
—
strong
RS200881798
EXOSC8
—
—
strong
RS1057519294
SLC25A46
—
—
strong
RS1057519296
SLC25A46
—
—
strong
RS1553730872
TBC1D23
—
—
strong
RS1553730885
TBC1D23
—
—
strong
RS1553731605
TBC1D23
—
—
strong
RS1064795772
SLC25A46
—
—
strong
RS560987504
COASY
—
—
strong
RS138594222
ATAD3A
—
—
strong
RS1553731603
TBC1D23
—
—
strong
RS371490361
ATAD3A
—
—
strong
RS1554093168
SLC25A46
—
—
strong
RS139632595
EXOSC9
—
—
strong
RS746681765
SLC25A46
—
—
strong
RS199818754
PPIL1
—
—
strong
RS1583103432
PPIL1
—
—
strong
RS374639625
PPIL1
—
—
strong
RS779945821
CDC40
—
—
strong
RS2133168246
EXOSC1
—
—
strong
RS751101419
SLC25A46
—
—
strong
RS771761288
SLC25A46
—
—
strong
RS1851221121
MINPP1
—
—
strong
RS2131792567
MINPP1
—
—
strong
RS2131793302
MINPP1
—
—
strong
RS1323094107
MINPP1
—
—
strong
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