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Genetic disease
Search:
Ensembl ID
Gene symbol
Open Targets Genetics
Clinvar
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Genomics england panel
Gene2Phenotype
UniProt literature
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Clingen
Orphanet
ENSG00000100416
TRMU
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Orphanet
Showing 1 to 1 of 1 entries
Open Targets Genetics
Clinvar
Gene Burden
Genomics england panel
Gene2Phenotype
UniProt literature
UniProt variants
Clingen
Orphanet
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Disease/phenotype
Publication
Variant ID
P-value
L2G score
Sample size
3mm strong meridian (right)
NA
22_45964892_C_T (rs10453458)
1.266e-96
0.0733
75410
Vertex-wise sulcal depth
van der Meer D et al, 2021
22_46364584_C_G (rs9615351)
5.000e-50
0.274
33748
Urinary metabolite levels in chronic kidney disease [X - 22162]
Schlosser P et al, 2020
22_46297163_A_T (rs60032274)
6.000e-46
0.105
1221
Total testosterone levels
Ruth KS et al, 2020
22_46237885_G_A (rs6008259)
2.200e-22
0.0574
230454
Eosinophil counts
Chen MH et al, 2020
22_46219479_G_A (rs4253755)
5.000e-22
0.308
583850
Cortical surface area
Shadrin AA et al, 2021
22_46364584_C_G (rs9615351)
1.000e-15
0.274
35657
Vertex-wise cortical surface area
van der Meer D et al, 2021
22_46364584_C_G (rs9615351)
2.000e-14
0.243
33748
Vertex-wise cortical thickness
van der Meer D et al, 2021
22_46364584_C_G (rs9615351)
8.000e-14
0.236
33748
Eosinophil counts
Sakaue S et al, 2021
22_46242262_C_A (rs10154348)
2.000e-13
0.308
442919
Cortical thickness
Shadrin AA et al, 2021
22_46364584_C_G (rs9615351)
2.000e-12
0.217
35657
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Disease/phenotype
Variant ID (RSID)
rsID
HGVS ID
ClinVar ID
Clinical significance
Review status
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46353829_G_A
rs387907022
NC_000022.11:g.46353829G>A
RCV002496439
pathogenic
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46335721_G_A
rs370964036
NC_000022.11:g.46335721G>A
RCV000265076
benign
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46357057_C_T
rs111830256
NC_000022.11:g.46357057C>T
RCV000337366
likely benign
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46337813_G_A
rs1174791046
NC_000022.11:g.46337813G>A
RCV001250082
pathogenic
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46353763_G_A
rs368787983
NC_000022.11:g.46353763G>A
RCV001144729
uncertain significance
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46350436_A_T
rs2078383974
NC_000022.11:g.46350436A>T
RCV001278848
uncertain significance
no assertion criteria provided
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46352338_G_A
rs201372242
NC_000022.11:g.46352338G>A
RCV001828228
likely benign
no assertion criteria provided
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46343260_A_G
NA
NC_000022.11:g.46343260A>G
RCV001826140
likely pathogenic
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46346453_A_G
rs144586525
NC_000022.11:g.46346453A>G
RCV002498607
likely benign
criteria provided, single submitter
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
22_46353829_G_A
rs387907022
NC_000022.11:g.46353829G>A
RCV000023804
likely pathogenic;pathogenic
criteria provided, multiple submitters, no conflicts
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