---
-
allele_string: C/A/T
assembly_name: GRCh38
colocated_variants:
-
allele_string: C/A/T
end: 133256042
frequencies:
T:
af: '0.0026'
afr: 0
amr: '0.0014'
eas: 0
eur: '0.0109'
gnomade: '0.003617'
gnomade_afr: '0.0007352'
gnomade_amr: '0.002312'
gnomade_asj: '0.002299'
gnomade_eas: 0
gnomade_fin: '0.01381'
gnomade_nfe: '0.003597'
gnomade_oth: '0.005249'
gnomade_sas: '0.001379'
gnomadg: '0.003052'
gnomadg_afr: '0.0005082'
gnomadg_ami: 0
gnomadg_amr: '0.001767'
gnomadg_asj: '0.001441'
gnomadg_eas: 0
gnomadg_fin: '0.01281'
gnomadg_mid: 0
gnomadg_nfe: '0.003927'
gnomadg_oth: '0.00239'
gnomadg_sas: '0.0006206'
sas: '0.001'
id: rs56116432
seq_region_name: 9
start: 133256042
strand: 1
end: 133256042
id: rs56116432
input: rs56116432
most_severe_consequence: missense_variant
seq_region_name: 9
start: 133256042
strand: 1
transcript_consequences:
-
biotype: protein_coding_CDS_not_defined
cdna_end: 718
cdna_start: 718
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000453660
variant_allele: A
-
biotype: protein_coding_CDS_not_defined
cdna_end: 718
cdna_start: 718
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000453660
variant_allele: T
-
amino_acids: G/V
biotype: protein_coding
cdna_end: 711
cdna_start: 711
cds_end: 686
cds_start: 686
codons: gGc/gTc
consequence_terms:
- missense_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.874'
protein_end: 229
protein_start: 229
sift_prediction: deleterious
sift_score: '0.01'
strand: -1
transcript_id: ENST00000538324
variant_allele: A
-
amino_acids: G/D
biotype: protein_coding
cdna_end: 711
cdna_start: 711
cds_end: 686
cds_start: 686
codons: gGc/gAc
consequence_terms:
- missense_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.901'
protein_end: 229
protein_start: 229
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000538324
variant_allele: T
-
amino_acids: G/V
biotype: protein_coding
cdna_end: 711
cdna_start: 711
cds_end: 686
cds_start: 686
codons: gGc/gTc
consequence_terms:
- missense_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.823'
protein_end: 229
protein_start: 229
sift_prediction: deleterious
sift_score: '0.01'
strand: -1
transcript_id: ENST00000611156
variant_allele: A
-
amino_acids: G/D
biotype: protein_coding
cdna_end: 711
cdna_start: 711
cds_end: 686
cds_start: 686
codons: gGc/gAc
consequence_terms:
- missense_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.782'
protein_end: 229
protein_start: 229
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000611156
variant_allele: T
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- intron_variant
- non_coding_transcript_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000647353
variant_allele: A
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- intron_variant
- non_coding_transcript_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000647353
variant_allele: T
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- downstream_gene_variant
distance: 64
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000651471
variant_allele: A
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- downstream_gene_variant
distance: 64
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000651471
variant_allele: T
-
biotype: protein_coding
consequence_terms:
- intron_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000679909
variant_allele: A
-
biotype: protein_coding
consequence_terms:
- intron_variant
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000679909
variant_allele: T
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- upstream_gene_variant
distance: 3445
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000680600
variant_allele: A
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- upstream_gene_variant
distance: 3445
gene_id: ENSG00000175164
gene_symbol: ABO
gene_symbol_source: HGNC
hgnc_id: HGNC:79
impact: MODIFIER
strand: -1
transcript_id: ENST00000680600
variant_allele: T
-
allele_string: C/A/T
assembly_name: GRCh38
end: 82134
id: rs56116432
input: rs56116432
intergenic_consequences:
-
consequence_terms:
- intergenic_variant
impact: MODIFIER
variant_allele: A
-
consequence_terms:
- intergenic_variant
impact: MODIFIER
variant_allele: T
most_severe_consequence: intergenic_variant
seq_region_name: HG2030_PATCH
start: 82134
strand: 1