MatsDahlberg
commented
10 years ago Nu returneras vilka andra familjer som har just denna variant. Taggen heter 'otherVariants'. Exempel:
{
"rating": "",
"location_reliability": "",
"functional_annotation": "-",
"stop_bp": 38334257,
"dbsnp129": null,
"lrt_whole_exome": null,
"omim_morbid_desc": "",
"rank_score": 13,
"hgnc_synonyms": "HCS;",
"phast_const_elements": "-",
"snorna_mirna_annotation": "-",
"chr": "chr21",
"hgnc_transcript_id": "-",
"esp6500": null,
"hgnc_symbol": "HLCS",
"GT_call_filter": "PASS",
"pseudogene": "",
"clinical_db_gene_annotation": "IEM",
"main_location": "",
"dbsnp132": null,
"disease_group": "Vitamin-responsive disorders",
"ref_nt": "-",
"mutation_taster": null,
"hgmd": "-",
"gene_annotation": "intronic",
"omim_gene_desc": "",
"start_bp": 38334257,
"otherVariants": [
{
"pk": 19994285,
"family": "100"
},
{
"pk": 22974595,
"family": "111"
},
{
"pk": 20732266,
"family": "121"
},
{
"pk": 20847566,
"family": "122"
},
{
"pk": 20976983,
"family": "123"
},
{
"pk": 21207792,
"family": "125"
},
{
"pk": 13394393,
"family": "13"
},
{
"pk": 21691977,
"family": "130"
},
{
"pk": 23099982,
"family": "132"
},
{
"pk": 21884650,
"family": "133"
},
{
"pk": 22096990,
"family": "135"
},
{
"pk": 22292895,
"family": "138"
},
{
"pk": 22390612,
"family": "139"
},
{
"pk": 16172225,
"family": "18"
},
{
"pk": 22726533,
"family": "27"
},
{
"pk": 16465762,
"family": "31"
},
{
"pk": 14810526,
"family": "32"
},
{
"pk": 14686444,
"family": "33"
},
{
"pk": 14452539,
"family": "44"
},
{
"pk": 15599802,
"family": "46"
},
{
"pk": 15473578,
"family": "48"
},
{
"pk": 15347548,
"family": "52"
},
{
"pk": 12907524,
"family": "53"
},
{
"pk": 17389145,
"family": "6"
},
{
"pk": 13912916,
"family": "7"
},
{
"pk": 13030708,
"family": "80"
},
{
"pk": 13154530,
"family": "82"
},
{
"pk": 18462173,
"family": "87"
},
{
"pk": 18972505,
"family": "92"
},
{
"pk": 19104920,
"family": "93"
},
{
"pk": 19234873,
"family": "94"
},
{
"pk": 19739313,
"family": "98"
},
{
"pk": 19866270,
"family": "99"
}
],
"dbsnp": "-",
"sift_whole_exome": null,
"id": 17389145,
"gerp_element": null,
"dbsnp_id": "-",
"polyphen_var_human": null,
"other_location": "",
"disease_gene_model": "AR",
"hbvdb": null,
"alt_nt": "A",
"phylop_whole_exome": null,
"expression_type": "",
"gene_model": "AD_denovo",
"variant_count": 33,
"thousand_g": null,
"ensembl_geneid": "ENSG00000159267;",
"hgnc_approved_name": "holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase);",
"genomic_super_dups": "-",
"polyphen_div_human": null,
"gerp_whole_exome": null
}
Just nu så får man reda på hur många andra familjer som har den variant som man tittar på men man vet inte vilka familjer.
Exempel: http://clinical-db:8082/variants/1627432 Returnerar en collection med bla denna variabel: "variant_count": 12
Men listan på de tolv familjerna saknas.