---
-
allele_string: G/A/C
assembly_name: GRCh38
colocated_variants:
-
allele_string: G/A/C
clin_sig:
- benign
clin_sig_allele: C:benign
end: 23047257
frequencies:
A:
gnomadg: '1.315e-05'
gnomadg_afr: 0
gnomadg_ami: 0
gnomadg_amr: 0
gnomadg_asj: 0
gnomadg_eas: 0
gnomadg_fin: 0
gnomadg_mid: 0
gnomadg_nfe: '2.941e-05'
gnomadg_oth: 0
gnomadg_sas: 0
C:
af: '0.0008'
afr: '0.0008'
amr: 0
eas: 0
eur: '0.003'
gnomadg: '0.003755'
gnomadg_afr: '0.0004588'
gnomadg_ami: 0
gnomadg_amr: '0.006089'
gnomadg_asj: '0.00692'
gnomadg_eas: 0
gnomadg_fin: '0.01654'
gnomadg_mid: 0
gnomadg_nfe: '0.003779'
gnomadg_oth: '0.001434'
gnomadg_sas: 0
sas: 0
id: rs41282276
phenotype_or_disease: 1
seq_region_name: 20
start: 23047257
strand: 1
var_synonyms:
ClinVar:
- RCV000374516
- VCV000337868
end: 23047257
id: rs41282276
input: rs41282276
most_severe_consequence: 3_prime_UTR_variant
regulatory_feature_consequences:
-
biotype: promoter
consequence_terms:
- regulatory_region_variant
impact: MODIFIER
regulatory_feature_id: ENSR00000135611
variant_allele: A
-
biotype: promoter
consequence_terms:
- regulatory_region_variant
impact: MODIFIER
regulatory_feature_id: ENSR00000135611
variant_allele: C
seq_region_name: 20
start: 23047257
strand: 1
transcript_consequences:
-
biotype: protein_coding
cdna_end: 2416
cdna_start: 2416
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000178726
gene_symbol: THBD
gene_symbol_source: HGNC
hgnc_id: HGNC:11784
impact: MODIFIER
strand: -1
transcript_id: ENST00000377103
variant_allele: A
-
biotype: protein_coding
cdna_end: 2416
cdna_start: 2416
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000178726
gene_symbol: THBD
gene_symbol_source: HGNC
hgnc_id: HGNC:11784
impact: MODIFIER
strand: -1
transcript_id: ENST00000377103
variant_allele: C