I4245

FASTA

Metadata

Reference

Data

identifier	I4245
alternative_identifiers	['RISE695', 'sample #5', 'A35 ext. El. 03-VII. Ue 03 Ind 1']
country	Spain
continent	Europe
region	Iberia
culture	Bell Beaker
epoch	Copper Age
group	BBC
comment	-
latitude	40.42599868774414
longitude	-3.5350000858306885
sex	F
site	Camino de las Yeseras, Madrid
site_detail	-
mt_hg	L1b1a
ychr_hg	-
year_from	-2460
year_to	-2291
date_detail	2460-2291 calBCE (3875±20 BP, PSUAMS-2320)
bp	3875±20
c14_lab_code	PSUAMS-2320
c14_sample_tag	True
c14_layer_tag	-
avg_coverage	552.9349975585938
sequence_source	bam
reference	Olalde et al. 2018. The Beaker phenomenon and the genomic transformation of northwest Europe. Nature, 555(7695), 190-196. (link)
data_link	http://www.ebi.ac.uk/ena/data/view/PRJEB23635
ychr_snps	-
mitopathos	[{'allele': '10398G', 'position': 10398, 'status': 'Reported / lineage L & M marker / also hg IJK', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND3'], 'diseases': ['PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy']}, {'allele': '12705T', 'position': 12705, 'status': 'Reported', 'homoplasmy': '<NA>', 'heteroplasmy': '<NA>', 'locus': ['MT-CO1'], 'diseases': ['Possible protective factor for normal tension glaucoma']}, {'allele': '16189C', 'position': 16189, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients']}, {'allele': '16270T', 'position': 16270, 'status': 'Reported', 'homoplasmy': 'nr', 'heteroplasmy': 'nr', 'locus': ['MT-CR'], 'diseases': ['Melanoma patients']}, {'allele': '195C', 'position': 195, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-CR'], 'diseases': ['BD-associated / melanoma pts']}, {'allele': '2352C', 'position': 2352, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-RNR2'], 'diseases': ['Possibly LVNC-associated']}, {'allele': '3308C', 'position': 3308, 'status': 'P.M.-possibly synergistic', 'homoplasmy': '-', 'heteroplasmy': '+', 'locus': ['MT-ND1'], 'diseases': ['MELAS / DEAF enhancer / hypertension / LVNC / putative LHON']}, {'allele': '5655C', 'position': 5655, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-TA'], 'diseases': ['DEAF enhancer / Hypertension risk']}]