I1540

FASTA

Metadata

Reference

Data

identifier	I1540
alternative_identifiers	['ESP28']
country	Germany
continent	Europe
region	central Europe
culture	Corded Ware
epoch	Neolithic
group	CWC
comment	-
latitude	51.41999816894531
longitude	11.680000305175781
sex	M
site	Esperstedt
site_detail	-
mt_hg	J1c5
ychr_hg	R1a1
year_from	-2500
year_to	-2050
date_detail	2500-2050 BCE
bp	-
c14_lab_code	-
c14_sample_tag	-
c14_layer_tag	-
avg_coverage	-
sequence_source	bam
reference	Mathieson et al. 2015. Genome-wide patterns of selection in 230 ancient Eurasians. Nature, 528(7583), 499-503. (link)
data_link	https://www.ebi.ac.uk/ena/data/view/PRJEB11450
ychr_snps	['R1:L875:16742224A->G', 'R:CTS8311:17930099C->A', 'R:P224:17285993C->T', 'R1a:L62:17891241A->G', 'R:CTS2913:14561760A->G', 'R:CTS10663:22687547A->T']
mitopathos	[{'allele': '11251G', 'position': 11251, 'status': 'Reported', 'homoplasmy': 'nr', 'heteroplasmy': 'nr', 'locus': ['MT-ND4'], 'diseases': ['Reduced risk of PD']}, {'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': '13708A', 'position': 13708, 'status': 'Conflicting reports', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-ND5'], 'diseases': ['LHON / Increased MS risk / higher freq in PD-ADS']}, {'allele': '185A', 'position': 185, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '295T', 'position': 295, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '3010A', 'position': 3010, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-RNR2'], 'diseases': ['Cyclic Vomiting Syndrome with Migraine / high altitude disease risk factor']}, {'allele': '228A', 'position': 228, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '310C', 'position': 310, 'status': 'Reported', 'homoplasmy': '<NA>', 'heteroplasmy': '<NA>', 'locus': ['MT-CR'], 'diseases': ['Possible protective factor for normal tension glaucoma']}, {'allele': '4216C', 'position': 4216, 'status': 'Conflicting reports', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND1'], 'diseases': ['LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage']}, {'allele': '462T', 'position': 462, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '489C', 'position': 489, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '9152C', 'position': 9152, 'status': 'Reported as VUS', 'homoplasmy': '-', 'heteroplasmy': '+', 'locus': ['MT-ATP6'], 'diseases': ['Patient with suspected mitochondrial disease']}]