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Genetic disease
Search:
Ensembl ID
Gene symbol
Open Targets Genetics
Clinvar
Gene Burden
Genomics england panel
Gene2Phenotype
UniProt literature
Uniprot variants
Clingen
Orphanet
ENSG00000037897
METTL1
OTG
EVA
N.A.
N.A.
N.A.
N.A.
N.A.
N.A.
N.A.
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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
Sitting height
NA
12_57857512_GT_G (rs1179797078)
1.871e-25
0.0612
360066
Platelet count
Barton AR et al, 2021
12_57615419_T_C (rs2277322)
2.400e-20
0.0682
444866
Serum alkaline phosphatase levels
Barton AR et al, 2021
12_57724465_T_C (rs2269720)
9.000e-17
0.156
437896
Standing height
NA
12_57686683_CT_C (rs1221449373)
3.000e-15
0.0898
360388
Platelet count
Vuckovic D et al, 2020
12_57651454_A_G (rs71432316)
1.800e-13
0.0575
408112
Platelet count
Chen MH et al, 2020
12_57723572_T_C (rs238516)
3.160e-13
0.0725
542827
Aspartate aminotransferase levels
Barton AR et al, 2021
12_57772620_T_G (rs2291617)
5.300e-13
0.151
436275
Calcium levels
Barton AR et al, 2021
12_57581372_A_C (rs775246)
1.700e-12
0.0712
400792
Multiple sclerosis
Beecham AH et al, 2013
12_57793975_G_T (rs11172342)
9.460e-12
0.0968
38582
Platelet count
NA
12_57723572_T_C (rs238516)
9.720e-12
0.0651
350474
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Disease/phenotype
Variant ID (RSID)
rsID
HGVS ID
ClinVar ID
Clinical significance
Review status
Abnormality of neuronal migration
12_57769596_A_G
rs863223376
NC_000012.12:g.57769596A>G
RCV000201350
uncertain significance
no assertion criteria provided
Inborn genetic diseases
12_57769936_G_C
NA
NC_000012.12:g.57769936G>C
RCV002718440
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57769812_T_C
NA
NC_000012.12:g.57769812T>C
RCV002652851
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57771977_C_T
NA
NC_000012.12:g.57771977C>T
RCV002656820
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57769861_G_A
NA
NC_000012.12:g.57769861G>A
RCV002541051
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57769876_G_A
NA
NC_000012.12:g.57769876G>A
RCV002969446
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57769040_C_T
NA
NC_000012.12:g.57769040C>T
RCV002977110
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57769822_G_A
NA
NC_000012.12:g.57769822G>A
RCV002988220
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57769860_C_T
NA
NC_000012.12:g.57769860C>T
RCV002907527
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
12_57771121_T_C
NA
NC_000012.12:g.57771121T>C
RCV002970401
uncertain significance
criteria provided, single submitter
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