pot-2

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Human Disease

Class OMIM Description

External Links

Variants

Location Sequence REF ALT Amino Acid Change Exon Annotation Putative Impact
II:14524236 F57C2.3 C T p.Phe14Phe 1/3 synonymous_variant LOW
II:14524299 F57C2.3 G A p.Ser35Ser 1/3 synonymous_variant LOW
II:14524396 F57C2.3 T A p.Phe68Ile 1/3 missense_variant MODERATE
II:14524455 F57C2.3 A G p.Gly87Gly 1/3 synonymous_variant LOW
II:14524686 F57C2.3 C T p.Ile149Ile 2/3 synonymous_variant LOW
II:14524732 F57C2.3 A C p.Lys165Gln 2/3 missense_variant MODERATE
II:14524804 F57C2.3 G A p.Glu189Lys 2/3 missense_variant MODERATE
II:14524912 F57C2.3 G A p.Val208Ile 3/3 missense_variant MODERATE

Gene Ontology

Type ID Label

Mappings

Report → Trait Interval Variance Explained log10p Submission Date
Telomere Length → telomere_resids II:12831063-15276626 0.239 17.88 2016-07-23
Telomere Length → telomere_length II:12831063-15276626 0.284 19.098 2016-07-23
HTA: G418 → G418_f.L2L3 II:13612032-15265106 0.201 6.583 2016-08-11
HTA: G418 → G418_f.L4 II:13612032-15265106 0.194 6.3 2016-08-11
HTA: G418 → G418_iqr.EXT II:13505162-15265106 0.208 6.827 2016-08-11
HTA: G418 → G418_iqr.TOF II:13505162-15265106 0.208 7.879 2016-08-11
HTA: G418 → G418_mean.green II:13959405-15265106 0.255 5.498 2016-08-11
HTA: G418 → G418_mean.EXT II:13612032-15265106 0.27 6.229 2016-08-11
HTA: G418 → G418_mean.norm.EXT II:13612032-15265106 0.201 6.028 2016-08-11
HTA: G418 → G418_mean.norm.green II:13612032-15265106 0.201 5.978 2016-08-11
HTA: G418 → G418_q75.norm.EXT II:13505162-15265106 0.201 6.383 2016-08-11
HTA: G418 → G418_q75.TOF II:13612032-15265106 0.208 5.891 2016-08-11
HTA: G418 → G418_q90.EXT II:13505162-15265106 0.263 6.835 2016-08-11
HTA: G418 → G418_q75.norm.green II:13505162-15265106 0.201 6.859 2016-08-11
HTA: G418 → G418_q90.norm.EXT II:13505162-15265106 0.201 8.432 2016-08-11
HTA: G418 → G418_q90.TOF II:13505162-15265106 0.201 8.575 2016-08-11
HTA: G418 → G418_q90.norm.green II:13505162-15265106 0.201 6.268 2016-08-11
HTA: G418 → G418_var.TOF II:13612032-15265106 0.159 5.7 2016-08-11

Phenotypes

Phenotype Evidence



1.1.0