Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

6 loci


		AR	SBMA	Spinal and bulbar muscular atrophy, Kennedy Disease	chrX:67545316-67545419	GCA (3)	XR
		COMP	EDM1, PSACH	Multiple epiphyseal dysplasia, Pseudoachondroplasia	chr19:18786034-18786050	GTC (3)	AD
		HOXD13	SD5	Syndactyly	chr2:176093058-176093103	GCN (3)	AD
		MIR7-2	CHNG3	Nongoitrous congenital hypothyroidism-3	chr15:88569433-88569452	TTTG (4)	AD
		SOX3	XLMR	X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone	chrX:140504316-140504361	NGC (3)	XR
		VWA1	HMNR7	Neuronopathy, distal hereditary motor, autosomal recessive 7	chr1:1435798-1435818	GGCGCGGAGC (10)	AR

6 rowsPer page

Downloads

	T2T-chm13	hg19	hg38
General a general-purpose extended bed file for filtering and annotating loci	.bed	.bed	.bed
TRGT for genotyping full allele sequences in PacBio HiFi reads	.bed	.bed	.bed
Atarva ⚠️ for genotyping full allele sequences in long-read data	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi
LongTR ⚠️ for genotyping full allele sequences in long-read data	.bed	.bed	.bed
Straglr ⚠️ for genotyping allele sizes in long read-data	.bed	.bed	.bed
Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications.	.json	.json	.json

⚠️ Still under development, use with caution

Plots

High-level, visual overview of loci.

Pathogenic Size Range

Age of Onset