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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
ENSG00000075975
MKRN2
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
Hemoglobin A1c levels
Barton AR et al, 2021
3_12585017_G_A (rs3729931)
2.600e-33
0.0657
437749
Low density lipoprotein cholesterol levels
Klimentidis YC et al, 2020
3_12474103_T_C (rs6763925)
5.400e-27
0.148
431167
Sex hormone-binding globulin levels
Barton AR et al, 2021
3_12666121_A_C (rs9861271)
2.900e-24
0.0549
397043
HDL cholesterol levels
Barton AR et al, 2021
3_12559338_G_A (rs2633443)
9.100e-23
0.474
400754
Height
Kichaev G et al, 2018
3_12620618_G_A (rs11713601)
2.000e-21
0.152
458000
Height
Barton AR et al, 2021
3_12601450_T_C (rs904464)
4.900e-21
0.228
458235
Red cell distribution width
Barton AR et al, 2021
3_12227766_C_T (rs13066322)
1.600e-20
0.14
441263
Glycated hemoglobin levels
Sinnott-Armstrong N et al, 2021
3_12585017_G_A (rs3729931)
3.000e-20
0.286
338919
Platelet count
Chen MH et al, 2020
3_12276253_A_G
4.880e-20
0.0917
542827
Red cell distribution width
Chen MH et al, 2020
3_12683274_C_T (rs112358666)
5.170e-20
0.296
531774
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Disease/phenotype
Variant ID (RSID)
rsID
HGVS ID
ClinVar ID
Clinical significance
Review status
Cardiovascular phenotype
3_12585161_C_G
rs5746244
NC_000003.12:g.12585161C>G
RCV002399357
benign
criteria provided, single submitter
Cardiovascular phenotype
3_12585129_C_T
NA
NC_000003.12:g.12585129C>T
RCV002403833
uncertain significance
criteria provided, single submitter
Cardiovascular phenotype
3_12584625_A_G
NA
NC_000003.12:g.12584625A>G
RCV002412737
likely benign
criteria provided, single submitter
Cardiovascular phenotype
3_12584954_C_T
rs750077934
NC_000003.12:g.12584954C>T
RCV000618501
uncertain significance
criteria provided, single submitter
Cardiovascular phenotype
3_12584634_G_A
NA
NC_000003.12:g.12584634G>A
RCV002410457
likely benign
criteria provided, single submitter
Cardiovascular phenotype
3_12584520_G_A
rs3730297
NC_000003.12:g.12584520G>A
RCV000252430
benign
criteria provided, single submitter
Cardiovascular phenotype
3_12584549_T_A
NA
NC_000003.12:g.12584549T>A
RCV002410556
uncertain significance
criteria provided, single submitter
Cardiovascular phenotype
3_12585118_T_C
rs771344560
NC_000003.12:g.12585118T>C
RCV002401989
benign
criteria provided, single submitter
Cardiovascular phenotype
3_12585133_T_G
rs745876012
NC_000003.12:g.12585133T>G
RCV002399359
uncertain significance
criteria provided, single submitter
Cardiovascular phenotype
3_12584554_G_A
NA
NC_000003.12:g.12584554G>A
RCV002408369
uncertain significance
criteria provided, single submitter
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