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Genetic disease
Search:
Ensembl ID
Gene symbol
Open Targets Genetics
Clinvar
Gene Burden
Genomics england panel
Gene2Phenotype
UniProt literature
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Clingen
Orphanet
ENSG00000198265
HELZ
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
Sex hormone-binding globulin levels
Barton AR et al, 2021
17_67108550_T_G (rs11657929)
9.400e-28
0.576
397043
Sex hormone-binding globulin levels adjusted for BMI
Ruth KS et al, 2020
17_67093847_C_T (rs11079681)
2.800e-25
0.614
368929
Sex hormone-binding globulin levels
Ruth KS et al, 2020
17_67113475_T_G (rs9893194)
1.100e-18
0.602
370125
Sex hormone-binding globulin levels adjusted for BMI
Ruth KS et al, 2020
17_67112871_T_C (rs9332408)
1.200e-14
0.576
180094
Sex hormone-binding globulin levels adjusted for BMI
Ruth KS et al, 2020
17_67093847_C_T (rs11079681)
1.900e-12
0.672
188908
Lymphocyte percentage of white cells
Vuckovic D et al, 2020
17_67108550_T_G (rs11657929)
6.300e-12
0.673
408112
Sex hormone-binding globulin levels
Ruth KS et al, 2020
17_67112871_T_C (rs9332408)
1.400e-11
0.576
180726
Leisure sedentary behaviour (television watching)
van de Vegte YJ et al, 2020
17_67074188_T_C (rs9902312)
5.000e-11
0.591
408815
Lymphocyte counts
Chen MH et al, 2020
17_67091192_G_C (rs763333)
6.380e-11
0.643
524923
Sex hormone-binding globulin levels
Ruth KS et al, 2020
17_67270446_T_C (rs7217661)
2.000e-10
0.662
189473
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Disease/phenotype
Variant ID (RSID)
rsID
HGVS ID
ClinVar ID
Clinical significance
Review status
Abnormality of brain morphology
17_67128716_T_C
rs1060499747
NC_000017.11:g.67128716T>C
RCV000454348
likely pathogenic
criteria provided, single submitter
Inborn genetic diseases
17_67120455_T_C
NA
NC_000017.11:g.67120455T>C
RCV002940260
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67107546_G_C
NA
NC_000017.11:g.67107546G>C
RCV002767387
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67123101_G_T
NA
NC_000017.11:g.67123101G>T
RCV002782147
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67109188_G_A
NA
NC_000017.11:g.67109188G>A
RCV002757600
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67109554_C_T
NA
NC_000017.11:g.67109554C>T
RCV002693485
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67109157_A_G
NA
NC_000017.11:g.67109157A>G
RCV002783260
likely benign
criteria provided, single submitter
Inborn genetic diseases
17_67087059_C_T
NA
NC_000017.11:g.67087059C>T
RCV002808022
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67078418_G_A
NA
NC_000017.11:g.67078418G>A
RCV002877749
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
17_67109520_G_A
NA
NC_000017.11:g.67109520G>A
RCV002905288
uncertain significance
criteria provided, single submitter
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