DES

Basic Information

Gene Symbol	DES
Entrez Id	1674
Position	chr2:220283099..220291461
Description	desmin
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs1039896	2:220282321	A/G	DES	near-gene-5	0.976	1.00391	0.0113	0.7305		2b
rs10804273	2:220289651	T/C	DES	intron	0.980	1.00110	0.0111	0.9215		7
rs114563435	2:220286798	A/C	DES	intron	0.950	0.98590	0.0586	0.8083		5
rs12621188	2:220287892	C/G	DES	intron	0.992	0.99810	0.0111	0.8626		5
rs12920	2:220285666	C/G	DES	coding-synon	0.998	0.99631	0.0111	0.7407		5
rs12991025	2:220284779	T/C	DES	intron	0.995	1.00200	0.0111	0.8559		4
rs145914722	2:220282812	T/C	DES	near-gene-5	0.795	1.01339	0.0518	0.7973		-
rs2070927	2:220282955	T/C	DES	near-gene-5	0.964	1.00240	0.0113	0.83		5
rs2854885	2:220282513	T/C	DES	near-gene-5	0.947	1.03541	0.0522	0.505		4
rs72963600	2:220286694	T/C	DES	intron	0.850	1.04928	0.0338	0.1546		7
rs76900548	2:220289229	C/G	DES	intron,ncRNA	0.816	0.99930	0.0308	0.9825		5
rs79683715	2:220287001	A/G	DES	intron	0.740	0.94403	0.0549	0.294		5
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Note: RegulomeDB score^*

score	supporting data	score	supporting data
1a	eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak	6	other
2a	TF binding + matched TF motif + matched DNase Footprint + DNase peak	5	TF binding or DNase peak
1b	eQTL + TF binding + any motif + DNase Footprint + DNase peak	4	TF binding + DNase peak
2b	TF binding + any motif + DNase Footprint + DNase peak	3b	TF binding + matched TF motif
1c	eQTL + TF binding + matched TF motif + DNase peak	1f	eQTL + TF binding / DNase peak
2c	TF binding + matched TF motif + DNase peak	3a	TF binding + any motif + DNase peak
1d	eQTL + TF binding + any motif + DNase peak	1e	eQTL + TF binding + matched TF motif

CNV Information

The gene is not affected by CNV!

eQTL Information