STR chr21:45196326-45196360

Repeat unit CCCCG/CGGGG repeats 7 times in the reference sequence.


...CCTCAGCCCAAGTAGGCGCTGGGGTCACGTGACGCGCGGGCGGAACCAAGGGGCGGGGAGGAGGCACTTTGGCTTCGGAGTCCCCTGCGGGGTCGCGGTG
GCCCCGCAAGAAGGGACGCG
CGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGAACCTGGCCACCACTCGCCGCAGGCTGGGTCTCCGCGCCCAGCGCT
GGTGTCGGGAGGGAGCGCCCCCCTCCCGGGGCTGGTATCGTCTTTCCGGGCGCCGAGTCACACGGACCGGGGCG
...

No gene information available

Gene (ENS) Tissue Beta (SE) P-value CAVIAR
CSTB (ENSG00000160213.5) Artery-Tibial 0.53 (0.05) 3.01e-21 1.00
CSTB (ENSG00000160213.5) Cells-Transformedfibroblasts 0.64 (0.05) 5.80e-26 1.00
CSTB (ENSG00000160213.5) Muscle-Skeletal 0.54 (0.05) 1.02e-26 1.00
CSTB (ENSG00000160213.5) Thyroid 0.50 (0.05) 3.01e-17 1.00
CSTB (ENSG00000160213.5) Skin-SunExposed 0.49 (0.05) 2.73e-19 1.00
CSTB (ENSG00000160213.5) Nerve-Tibial 0.48 (0.06) 6.89e-16 1.00
CSTB (ENSG00000160213.5) Esophagus-Muscularis 0.41 (0.06) 8.11e-10 0.99
CSTB (ENSG00000160213.5) WholeBlood 0.42 (0.05) 2.88e-15 0.99
CSTB (ENSG00000160213.5) Artery-Aorta 0.44 (0.07) 2.93e-10 0.98
CSTB (ENSG00000160213.5) Heart-LeftVentricle 0.46 (0.06) 1.82e-11 0.96
CSTB (ENSG00000160213.5) Adipose-Visceral 0.38 (0.07) 9.67e-08 0.73
RRP1 (ENSG00000160214.8) Skin-NotSunExposed 0.24 (0.07) 6.28e-04 0.09
CSTB (ENSG00000160213.5) Adipose-Subcutaneous 0.23 (0.06) 1.48e-04 0.02
CSTB (ENSG00000160213.5) Skin-NotSunExposed 0.32 (0.07) 2.95e-06 0.01
See the about page for a detailed description of each parameter.
No sequence data available.

Parameter Value
Mutation model: Mutation rate 2.40e-08
Mutation model: Beta 0.203
Mutation model: P(single step) 0.975
Constraint (Z-score) 0.000
Stutter model: up 0.001
Stutter model: down 0.001
Stutter model: p 0.667
See the about page for a detailed description of each parameter.

Locus-level imputation metrics

Parameter Value
SSC - Concordance 0.95
SSC - r 0.89
1000 (EUR) - Concordance 0.98
1000G (EUR) - r 0.98
1000 (AFR) - Concordance 0.89
1000G (AFR) - r 0.79
1000 (EAS) - Concordance 0.93
1000G (EAS) - r 0.86

Allele-level imputation metrics

Allele (bp diff from hg19) r2 P-val
-12 0.82 0.000e+00
0 0.81 0.000e+00
12 0.07 4.751e-17
See the about page for a detailed description of each parameter.