STR chr3:53128363-53128413

Repeat unit AC/GT repeats 25 times in the reference sequence.


...AAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAA
AGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTT
TCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGG...

Gene (ENS) Tissue Beta (SE) P-value CAVIAR
RFT1 (ENSG00000163933.5) Brain_Cerebellum 0.78 (0.07) 8.03e-18 1.00
RFT1 (ENSG00000163933.5) Esophagus-Muscularis 0.72 (0.05) 5.67e-31 0.42
SFMBT1 (ENSG00000163935.9) Artery-Aorta -0.44 (0.07) 2.08e-09 0.12
RFT1 (ENSG00000163933.5) Cells-Transformedfibroblasts 0.44 (0.07) 3.00e-10 0.03
RFT1 (ENSG00000163933.5) Brain_Caudate 0.53 (0.09) 8.94e-08 0.02
RFT1 (ENSG00000163933.5) Muscle-Skeletal 0.36 (0.05) 1.97e-10 0.01
SFMBT1 (ENSG00000163935.9) Adipose-Subcutaneous -0.27 (0.06) 3.79e-05 0.01
RFT1 (ENSG00000163933.5) Adipose-Visceral 0.42 (0.07) 2.58e-08 0.01
RFT1 (ENSG00000163933.5) Adipose-Subcutaneous 0.50 (0.06) 5.73e-16 0.01
RFT1 (ENSG00000163933.5) Skin-NotSunExposed 0.47 (0.07) 2.41e-11 0.01
RFT1 (ENSG00000163933.5) Nerve-Tibial 0.48 (0.06) 6.49e-15 0.01
SFMBT1 (ENSG00000163935.9) Nerve-Tibial -0.33 (0.06) 3.45e-07 0.00
RFT1 (ENSG00000163933.5) WholeBlood 0.22 (0.06) 2.21e-04 0.00
RFT1 (ENSG00000163933.5) Skin-SunExposed 0.37 (0.06) 6.60e-10 0.00
RFT1 (ENSG00000163933.5) Artery-Aorta 0.57 (0.06) 3.44e-16 0.00
RFT1 (ENSG00000163933.5) Lung 0.37 (0.06) 1.50e-08 0.00
RFT1 (ENSG00000163933.5) Artery-Tibial 0.63 (0.05) 1.66e-28 0.00
RFT1 (ENSG00000163933.5) Thyroid 0.61 (0.05) 1.02e-23 0.00
See the about page for a detailed description of each parameter.
No sequence data available.

Parameter Value
Mutation model: Mutation rate 1.16e-04
Mutation model: Beta 0.036
Mutation model: P(single step) 0.700
Constraint (Z-score) -0.787
Stutter model: up 0.004
Stutter model: down 0.053
Stutter model: p 0.905
See the about page for a detailed description of each parameter.

Locus-level imputation metrics

Parameter Value
SSC - Concordance 0.97
SSC - r 0.98
1000 (EUR) - Concordance 0.99
1000G (EUR) - r 1.00
1000 (AFR) - Concordance 0.83
1000G (AFR) - r 0.71
1000 (EAS) - Concordance 0.94
1000G (EAS) - r 0.99

Allele-level imputation metrics

Allele (bp diff from hg19) r2 P-val
-10 0.97 0.000e+00
-8 0.65 3.059e-219
-6 0.93 0.000e+00
-4 0.90 0.000e+00
-2 0.67 9.858e-231
0 0.63 1.458e-210
2 0.86 0.000e+00
4 0.00 9.553e-01
See the about page for a detailed description of each parameter.