---
-
allele_string: C/A/G/T
assembly_name: GRCh38
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 141973545
id: CM031368
phenotype_or_disease: 1
seq_region_name: 7
start: 141973545
strand: 1
-
allele_string: COSMIC_MUTATION
end: 141973545
id: COSV71885858
phenotype_or_disease: 1
seq_region_name: 7
somatic: 1
start: 141973545
strand: 1
var_synonyms:
COSMIC:
- COSM4004331
-
allele_string: C/A/G/T
clin_sig:
- drug_response
clin_sig_allele: G:drug_response
clin_sig_ref_allele: C
end: 141973545
frequencies:
A:
gnomade: '1.368e-06'
gnomade_afr: 0
gnomade_amr: 0
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_mid: 0
gnomade_nfe: '1.799e-06'
gnomade_remaining: 0
gnomade_sas: 0
G:
af: '0.5048'
afr: '0.475'
amr: '0.6585'
eas: '0.6756'
eur: '0.4225'
gnomade: '0.416'
gnomade_afr: '0.4846'
gnomade_amr: '0.6658'
gnomade_asj: '0.4646'
gnomade_eas: '0.6101'
gnomade_fin: '0.3549'
gnomade_mid: '0.4488'
gnomade_nfe: '0.4027'
gnomade_remaining: '0.4385'
gnomade_sas: '0.3468'
gnomadg: '0.447'
gnomadg_afr: '0.4749'
gnomadg_ami: '0.2226'
gnomadg_amr: '0.5947'
gnomadg_asj: '0.4622'
gnomadg_eas: '0.6673'
gnomadg_fin: '0.3502'
gnomadg_mid: '0.483'
gnomadg_nfe: '0.4036'
gnomadg_remaining: '0.4844'
gnomadg_sas: '0.3409'
sas: '0.3446'
T:
gnomade: '6.841e-07'
gnomade_afr: 0
gnomade_amr: 0
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_mid: 0
gnomade_nfe: '8.993e-07'
gnomade_remaining: 0
gnomade_sas: 0
id: rs713598
phenotype_or_disease: 1
pubmed:
- 21467728
- 18248681
- 33262486
- 19092995
- 28858874
- 28455260
- 33930497
- 24534176
- 26268603
- 20858777
- 31137020
- 30060620
- 24000232
- 26633761
- 29385734
- 30340375
- 36070352
- 22132133
- 20675712
- 19687126
- 23166662
- 24627758
- 23133589
- 29947923
- 19782709
- 22824251
- 12595690
- 15883422
- 18834969
- 19779476
- 20594349
- 20980355
- 21557234
- 21674048
- 21763010
- 21927640
- 23900446
- 24083639
- 24705770
- 25303850
- 25832883
- 26941429
- 27245112
- 27475756
- 27515546
- 27711175
- 28041559
- 28652185
- 28738701
- 31921309
- 32659773
- 33103533
- 33582215
- 34117880
- 34242732
- 34653070
- 30301923
- 28835712
- 25381313
- 25050705
- 35057433
- 36771415
- 32521750
- 33294096
- 32121357
- 36980937
- 23821729
- 36819962
- 35425718
- 23761681
- 34674725
- 24025627
- 33170488
- 32708215
- 31922012
- 36477530
- 23878414
- 31386148
- 24607656
- 22440514
- 32846055
- 36555636
- 31357559
- 29393149
- 28587069
- 27733510
- 27506221
- 33911954
- 35301737
- 30176005
- 28923290
- 32282124
- 25257701
- 33005019
- 33467165
- 24312479
- 37266651
- 26391354
- 34627344
- 36712576
- 35565677
- 23680431
- 26090297
- 36529808
- 23516368
- 28074885
- 35090440
- 26785164
- 35223410
- 33777105
- 28767651
- 17662150
- 30137252
- 3679377
seq_region_name: 7
start: 141973545
strand: 1
var_synonyms:
ClinVar:
- RCV000003038
- VCV000002904
OMIM:
- '607751.0001'
UniProt:
- VAR_017860
end: 141973545
id: rs713598
input: rs713598
most_severe_consequence: missense_variant
seq_region_name: 7
start: 141973545
strand: 1
transcript_consequences:
-
biotype: protein_coding
consequence_terms:
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000257335
gene_symbol: MGAM
gene_symbol_source: HGNC
hgnc_id: HGNC:7043
impact: MODIFIER
strand: 1
transcript_id: ENST00000465654
variant_allele: A
-
biotype: protein_coding
consequence_terms:
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000257335
gene_symbol: MGAM
gene_symbol_source: HGNC
hgnc_id: HGNC:7043
impact: MODIFIER
strand: 1
transcript_id: ENST00000465654
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000257335
gene_symbol: MGAM
gene_symbol_source: HGNC
hgnc_id: HGNC:7043
impact: MODIFIER
strand: 1
transcript_id: ENST00000465654
variant_allele: T
-
amino_acids: A/S
biotype: protein_coding
cdna_end: 229
cdna_start: 229
cds_end: 145
cds_start: 145
codons: Gca/Tca
consequence_terms:
- missense_variant
gene_id: ENSG00000257138
gene_symbol: TAS2R38
gene_symbol_source: HGNC
hgnc_id: HGNC:9584
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.028'
protein_end: 49
protein_start: 49
sift_prediction: deleterious
sift_score: '0.03'
strand: -1
transcript_id: ENST00000547270
variant_allele: A
-
amino_acids: A/P
biotype: protein_coding
cdna_end: 229
cdna_start: 229
cds_end: 145
cds_start: 145
codons: Gca/Cca
consequence_terms:
- missense_variant
gene_id: ENSG00000257138
gene_symbol: TAS2R38
gene_symbol_source: HGNC
hgnc_id: HGNC:9584
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.005'
protein_end: 49
protein_start: 49
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000547270
variant_allele: G
-
amino_acids: A/T
biotype: protein_coding
cdna_end: 229
cdna_start: 229
cds_end: 145
cds_start: 145
codons: Gca/Aca
consequence_terms:
- missense_variant
gene_id: ENSG00000257138
gene_symbol: TAS2R38
gene_symbol_source: HGNC
hgnc_id: HGNC:9584
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.013'
protein_end: 49
protein_start: 49
sift_prediction: tolerated
sift_score: '0.15'
strand: -1
transcript_id: ENST00000547270
variant_allele: T